5267 lines
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Entry
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- *602671 - SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4
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- OMIM
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<p>
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<span class="h4">*602671</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602671">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000137700;t=ENST00000525102" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=2542" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=602671" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000137700;t=ENST00000525102" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001164277,NM_001164278,NM_001164279,NM_001164280,NM_001467" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=602671" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04052&isoform_id=04052_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SLC37A4" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/2765461,3859932,3913718,4128045,4235107,4406200,4503847,6560624,7188342,7188344,12803189,13097789,15779210,18182848,40352813,41350415,48145583,62087632,119587836,119587837,119587838,119587839,119587840,119587841,119587842,119587843,158260307,194374043,194391024,221040532,256219483,256219543,256219564,256219598,2187254901" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/O43826" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2542" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000137700;t=ENST00000525102" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC37A4" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SLC37A4" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+2542" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/SLC37A4" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:2542" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2542" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000545985.5&hgg_start=119024112&hgg_end=119030877&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4061" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/slc37a4" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602671[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602671[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SLC37A4/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000137700" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SLC37A4" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SLC37A4" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SLC37A4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC37A4&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA28472" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4061" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1316650" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/SLC37A4#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1316650" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2542/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2542" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009811;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009811 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00302978;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00302978 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2230" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:602671" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2542" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLC37A4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 237965005, 30102006<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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602671
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4
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</span>
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1<br />
|
|
GLUCOSE-6-PHOSPHATE TRANSLOCASE<br />
|
|
G6P TRANSLOCASE
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC37A4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC37A4</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001">11q23.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:119024112-119030877&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:119,024,112-119,030,877</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619525,232220,232240" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001">
|
|
11q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of glycosylation, type IIw
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>G6PT1 regulates the rate-limiting step of glucose-6-phosphate (G6P) transport through the endoplasmic reticulum (ER) membrane. It also functions in ATP-mediated calcium sequestration in the ER lumen and as a G6P receptor/sensor (<a href="#1" class="mim-tip-reference" title="Belkaid, A., Copland, I. B., Massillon, D., Annabi, B. <strong>Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.</strong> FEBS Lett. 580: 3746-3752, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16777101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16777101</a>] [<a href="https://doi.org/10.1016/j.febslet.2006.05.071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16777101">Belkaid et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16777101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E. <strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong> FEBS Lett. 419: 235-238, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428641</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01463-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428641">Gerin et al. (1997)</a> isolated a cDNA from a human bladder tumor cDNA library. The cDNA predicted a 429-amino acid protein with a calculated molecular mass of 46 kD. The protein contains a putative signal for retention in the endoplasmic reticulum. Its nearest homolog was the bacterial gene UhpC, an E. coli glucose-6-phosphate receptor. Northern blot analysis revealed a 2.0-kb mRNA in human liver. The authors concluded that this gene is likely to be a human glucose-6-phosphate translocase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Northern blot analysis, <a href="#8" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Noel, G., Van Schaftingen, E. <strong>Structure of the gene mutated in glycogen storage disease type Ib.</strong> Gene 227: 189-195, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10023055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10023055</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00614-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10023055">Gerin et al. (1999)</a> detected a G6PT1 transcript of about 2.4 kb in liver and kidney, with weaker expression in leukocytes. They identified a G6PT1 splice variant containing exon 7 in fetal brain EST libraries. Exon 7 introduces 22 amino acids into the luminal loop between transmembrane helices 9 and 10. PCR analysis did not detect the exon 7-containing variant in liver, kidney, or leukocyte mRNA. PCR analysis of mouse tissues revealed exon 7-containing transcripts in brain and heart, but not in liver, kidney, lung, or spleen. In mouse, exon 7 encodes 20 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10023055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Ihara, K., Nomura, A., Hikino, S., Takada, H., Hara, T. <strong>Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells.</strong> J. Inherit. Metab. Dis. 23: 583-592, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032333</a>] [<a href="https://doi.org/10.1023/a:1005677912539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032333">Ihara et al. (2000)</a> investigated the quantitative expression of the G6PT1 gene and its splice variants in human tissues. The G6PT1 gene was strongly expressed in liver, kidney, and hematopoietic progenitor cells. RT-PCR amplification of G6PT1 cDNA revealed tissue-specific expression of several splice variants. The exon 7-containing brain isoform was also identified in heart and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Ihara, K., Kuromaru, R., Hara, T. <strong>Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.</strong> Hum. Genet. 103: 493-496, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856496</a>] [<a href="https://doi.org/10.1007/s004390050856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856496">Ihara et al. (1998)</a> determined that the G6P translocase gene spans approximately 5 kb and contains 8 exons. <a href="#20" class="mim-tip-reference" title="Marcolongo, P., Barone, V., Priori, G., Pirola, B., Giglio, S., Biasucci, G., Zammarchi, E., Parenti, G., Burchell, A., Benedetti, A., Sorrentino, V. <strong>Structure and mutation analysis of the glycogen storage disease type 1b gene.</strong> FEBS Lett. 436: 247-250, 1998. Note: Erratum: FEBS Lett. 445: 451 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781688</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)01129-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781688">Marcolongo et al. (1998)</a> determined that the G6PT1 gene contains 9 exons and spans about 4 kb. <a href="#11" class="mim-tip-reference" title="Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong> Am. J. Med. Genet. 86: 253-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482875</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482875">Hou et al. (1999)</a> found that the G6PT1 gene spans 4.5 kb and that all exon/intron boundaries adhere to the canonical ag/gt rule. <a href="#8" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Noel, G., Van Schaftingen, E. <strong>Structure of the gene mutated in glycogen storage disease type Ib.</strong> Gene 227: 189-195, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10023055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10023055</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00614-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10023055">Gerin et al. (1999)</a> and <a href="#10" class="mim-tip-reference" title="Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W., Chou, J. Y. <strong>Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.</strong> J. Biol. Chem. 274: 5532-5536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10026167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10026167</a>] [<a href="https://doi.org/10.1074/jbc.274.9.5532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10026167">Hiraiwa et al. (1999)</a> determined that the G6PT1 gene contains 9 exons, and <a href="#10" class="mim-tip-reference" title="Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W., Chou, J. Y. <strong>Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.</strong> J. Biol. Chem. 274: 5532-5536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10026167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10026167</a>] [<a href="https://doi.org/10.1074/jbc.274.9.5532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10026167">Hiraiwa et al. (1999)</a> determined that the G6PT gene spans 5.3 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10482875+10026167+10023055+9856496+9781688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Noel, G., Van Schaftingen, E. <strong>Structure of the gene mutated in glycogen storage disease type Ib.</strong> Gene 227: 189-195, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10023055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10023055</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00614-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10023055">Gerin et al. (1999)</a> identified an upstream TATA box and 2 main transcriptional start sites at about -100 and -200 nt with respect to the initiator ATG. They also found 3 Alu sequences at about -3400, -2800, and -1800 nt with respect to the initiator ATG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10023055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. <strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong> Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9675154">Kure et al. (1998)</a> mapped the G6PT1 gene to chromosome 11 by study of a DNA panel of human/hamster hybrid cells. <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> used radiation hybrid analysis to map the G6PT1 gene to chromosome 11q23. By fluorescence in situ hybridization, <a href="#14" class="mim-tip-reference" title="Ihara, K., Takabayashi, A., Terasaki, K., Hara, T. <strong>Assignment of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization.</strong> Cytogenet. Cell Genet. 83: 50-51, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9925924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9925924</a>] [<a href="https://doi.org/10.1159/000015167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9925924">Ihara et al. (1998)</a> refined the localization of the G6PT1 gene to chromosome 11q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9758626+9675154+9925924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Lin, B., Pan, C.-J., Chou, J. Y. <strong>Human variant glucose-6-phosphate transporter is active in microsomal transport.</strong> Hum. Genet. 107: 526-529, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140953</a>] [<a href="https://doi.org/10.1007/s004390000404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140953">Lin et al. (2000)</a> showed that the exon 7-containing G6PT splice variant, which they designated vG6PT, was active in microsomal G6P transport. They raised the possibility that mutations in exon 7 of the G6PT gene, which would not perturb glucose homeostasis, might have other deleterious effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using small interfering RNA, <a href="#1" class="mim-tip-reference" title="Belkaid, A., Copland, I. B., Massillon, D., Annabi, B. <strong>Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.</strong> FEBS Lett. 580: 3746-3752, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16777101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16777101</a>] [<a href="https://doi.org/10.1016/j.febslet.2006.05.071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16777101">Belkaid et al. (2006)</a> found that silencing G6PT induced necrosis and late apoptosis in brain tumor-derived U87 glioma cells. The anticancer drug curcumin, which regulates key enzymes involved in carbohydrate metabolism, inhibited G6PT expression by more than 90% and triggered U87 cell death. Overexpression of G6PT rescued cells from curcumin-induced cell death. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16777101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of enzymologic, cell-culture, and in vivo approaches, <a href="#23" class="mim-tip-reference" title="Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E. <strong>Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.</strong> Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30626647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30626647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30626647[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1816143116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30626647">Veiga-da-Cunha et al. (2019)</a> demonstrated that G6PT and G6PC3 (<a href="/entry/611045">611045</a>) collaborate to destroy 1,5-anhydroglucitol-6-phosphate (1,5AG6P), a close structural analog of glucose-6-phosphate and an inhibitor of low-Km hexokinases, which catalyze the first step in glycolysis in most tissues. <a href="#23" class="mim-tip-reference" title="Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E. <strong>Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.</strong> Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30626647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30626647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30626647[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1816143116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30626647">Veiga-da-Cunha et al. (2019)</a> showed that 1,5AG6P is made by phosphorylation of 1,5-anhydroglucitol (1,5AG), a compound normally present in human plasma, by side activities of ADP-glucokinase and low-Km hexokinases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30626647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Glycogen Storage Disease Ib, Ic, Id</em></strong></p><p>
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In 4 unrelated Japanese families with glycogen storage disease Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#18" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. <strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong> Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9675154">Kure et al. (1998)</a> identified 3 novel mutations in the G6PT1 gene; the W118R mutation (<a href="#0003">602671.0003</a>) accounted for 4 of 8 mutant alleles, suggesting that it is particularly prevalent among Japanese patients. <a href="#12" class="mim-tip-reference" title="Ihara, K., Kuromaru, R., Hara, T. <strong>Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.</strong> Hum. Genet. 103: 493-496, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856496</a>] [<a href="https://doi.org/10.1007/s004390050856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856496">Ihara et al. (1998)</a> also reported 2 novel mutations in a Japanese patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9675154+9856496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with glycogen storage disease Ib, <a href="#7" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E. <strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong> FEBS Lett. 419: 235-238, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428641</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01463-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428641">Gerin et al. (1997)</a> found 2 mutations in the putative glucose-6-phosphate translocase. One patient was homozygous for a gly339-to-cys substitution (<a href="#0001">602671.0001</a>). The other patient was a compound heterozygote for the gly339-to-cys mutation and a glu355-to-ter (<a href="#0002">602671.0002</a>) mutation. Both patients showed typical clinical and laboratory findings of GSD Ib, including neutropenia. Neither mutation was present in 4 normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> showed that mutations in the G6PT1 gene account for GSD types Ib and Ic (GSD1C; <a href="/entry/232240">232240</a>). Using SSCP analysis and sequencing, they screened this gene for mutations in genomic DNA from 22 families with GSD types Ib and Ic. Of 20 mutations found, 11 resulted in truncated proteins that were probably nonfunctional. Most other mutations resulted in substitutions of conserved or semiconserved residues. The 2 most common mutations, gly339 to cys and 1211-1212delCT (<a href="#0006">602671.0006</a>), together accounted for approximately 40% of the disease alleles. The fact that the same mutations were found in GSD types Ib and Ic could indicate either that Pi and glucose-6-phosphate are transported in microsomes by the same transporter or that the biochemical assays used to differentiate Pi and glucose-6-phosphate transport defects are not reliable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 12 of the 22 families investigated by <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a>, patients were homozygous for the identified mutation of the G6PT1 gene. In 4 of these families the parents were consanguineous. In 7 of the 10 families in which the patients showed compound heterozygosity, the availability of parental DNA enabled them to show that the 2 mutations were on different chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W., Chou, J. Y. <strong>Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.</strong> J. Biol. Chem. 274: 5532-5536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10026167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10026167</a>] [<a href="https://doi.org/10.1074/jbc.274.9.5532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10026167">Hiraiwa et al. (1999)</a> identified mutations in the G6PT gene that segregated with GSD Ib. They functionally characterized the recombinant G6PT and demonstrated that mutations found in GSD Ib patients disrupt G6P transport. <a href="#10" class="mim-tip-reference" title="Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W., Chou, J. Y. <strong>Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.</strong> J. Biol. Chem. 274: 5532-5536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10026167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10026167</a>] [<a href="https://doi.org/10.1074/jbc.274.9.5532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10026167">Hiraiwa et al. (1999)</a> stated that this was the first definition of a molecular basis for functional deficiency in GSD Ib and raised the possibility that defective G6PT contributes to neutropenia and neutrophil/monocyte dysfunctions characteristic of GSD Ib patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10026167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong> Am. J. Med. Genet. 86: 253-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482875</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482875">Hou et al. (1999)</a> studied 5 Japanese patients with GSD type Ib. Two novel homozygous mutations were identified in 2 families: a 3-bp deletion (V235del) in exon 2 in a consanguineous family and a splicing mutation (IVS7DS+1G-T) in intron 7 in a nonconsanguineous family. Two patients were homozygotes for W118R. A fifth patient was a compound heterozygote for W118R and IVS1DS+1G-A. Including their previous study (<a href="#18" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. <strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong> Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9675154">Kure et al., 1998</a>), this group found a total of 10 W118R alleles in 9 Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9675154+10482875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., Lee, P. J., Leonard, J. V., Maire, I., Wendel, U., Vikkula, M., Van Schaftingen, E. <strong>The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.</strong> Europ. J. Hum. Genet. 7: 717-723, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482962</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482962">Veiga-da-Cunha et al. (1999)</a> analyzed 23 additional families diagnosed as having GSD I non-a (i.e., GSD Ib, Ic, Id). The 9 exons of the G6PT1 gene were amplified by PCR and mutations sought both by SSCP and heteroduplex analysis. Except for one family in which only 1 mutation was found, all patients had 2 allelic mutations in the gene encoding the putative translocase. The mutations were new in 16 and they all were predicted to result in nonfunctional proteins. All investigated patients had some degree of neutropenia or neutrophil dysfunction, and the clinical phenotype of 4 new patients who had been diagnosed as GSD Ic and the one diagnosed as GSD Id was no different from that of the GSD Ib patients. Since these patients, and the 4 type Ic patients from 2 families previously studied, shared several mutations with GSD Ib patients, <a href="#25" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., Lee, P. J., Leonard, J. V., Maire, I., Wendel, U., Vikkula, M., Van Schaftingen, E. <strong>The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.</strong> Europ. J. Hum. Genet. 7: 717-723, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482962</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482962">Veiga-da-Cunha et al. (1999)</a> concluded that their basic defect is in the putative translocase and that they should be reclassified as GSD Ib. Isolated defects in microsomal Pi transporter or in microsomal glucose transporter must be very rare or have phenotypes that are not recognized as GSD I, so that in practice there are only 2 subtypes of GSD I (Ia and Ib). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Galli, L., Orrico, A., Marcolongo, P., Fulceri, R., Burchell, A., Melis, D., Parini, R., Gatti, R., Lam, C.-W., Benedetti, A., Sorrentino, V. <strong>Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.</strong> FEBS Lett. 459: 255-258, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10518030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10518030</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)01248-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10518030">Galli et al. (1999)</a> reported on the analysis by SSCP and/or DNA sequencing of the exons of the G6PT gene in 14 patients diagnosed as affected with either the GSD Ib or GSD Ic subtype. Mutations in the G6PT gene were found in all patients. Four of the mutations were novel. The results confirmed that the Ib and Ic forms are due to mutations in the same gene. <a href="#6" class="mim-tip-reference" title="Galli, L., Orrico, A., Marcolongo, P., Fulceri, R., Burchell, A., Melis, D., Parini, R., Gatti, R., Lam, C.-W., Benedetti, A., Sorrentino, V. <strong>Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.</strong> FEBS Lett. 459: 255-258, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10518030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10518030</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)01248-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10518030">Galli et al. (1999)</a> also showed that the same kind of mutation may or may not be associated with evident clinical complications such as neutrophil impairment. There was no correlation between the type and position of the mutation and the severity of the disease, including the presence of neutropenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10518030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Janecke, A. R., Lindner, M., Erdel, M., Mayatepek, E., Moslinger, D., Podskarbi, T., Fresser, F., Stockler-Ipsiroglu, S., Hoffmann, G. F., Utermann, G. <strong>Mutation analysis in glycogen storage disease type 1 non-a.</strong> Hum. Genet. 107: 285-289, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11071391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11071391</a>] [<a href="https://doi.org/10.1007/s004390000371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11071391">Janecke et al. (2000)</a> studied 13 patients with glycogen storage disease type I non-A. Analysis of the G6PT gene revealed mutations on both chromosomes in each case, 4 of which were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11071391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Chen, L.-Y., Lin, B., Pan, C.-J., Hiraiwa, H., Chou, J. Y. <strong>Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.</strong> J. Biol. Chem. 275: 34280-34286, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10940311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10940311</a>] [<a href="https://doi.org/10.1074/jbc.M006439200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10940311">Chen et al. (2000)</a> demonstrated that 15 missense mutations and a codon deletion mutation abolished microsomal G6P uptake activity and that 2 splicing mutations caused exon skipping in the G6PT gene in patients with glycogen storage disease Ib. Mutation analysis elucidated the structural requirements for stability and transport activity of the G6PT protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10940311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an assay based on an adenoviral vector-mediated expression system, <a href="#3" class="mim-tip-reference" title="Chen, L.-Y., Pan, C.-J., Shieh, J.-J., Chou, J. Y. <strong>Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.</strong> Hum. Molec. Genet. 11: 3199-3207, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12444104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12444104</a>] [<a href="https://doi.org/10.1093/hmg/11.25.3199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12444104">Chen et al. (2002)</a> functionally characterized all 30 codon mutations found in GSD Ib patients. Twenty of the naturally occurring mutations completely abolished microsomal G6P uptake activity, whereas the other 10 mutations (including 5 previously characterized) partially inactivated the transporter. The authors also demonstrated that 5 of the mutations, including val235del (<a href="#0010">602671.0010</a>), G339C (<a href="#0001">602671.0001</a>), and G339D (<a href="#0015">602671.0015</a>), also compromised G6PT stability. The N-terminal domain of G6PT was required for optimal G6P uptake activity. Degradation of both wildtype and mutant G6PT was inhibited by the proteasome inhibitor lactacystin, demonstrating that G6PT is a substrate for proteasome-mediated degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12444104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Disorder of Glycosylation, Type IIw</em></strong></p><p>
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In a patient with CDG2W, <a href="#21" class="mim-tip-reference" title="Marquardt, T., Bzduch, V., Hogrebe, M., Rust, S., Reunert, J., Gruneberg, M., Park, J., Callewaert, N., Lachmann, R., Wada, Y., Engel, T. <strong>SLC37A4-CDG: mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.</strong> Molec. Genet. Metab. Rep. 25: 100636, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32884905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32884905</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32884905[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgmr.2020.100636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32884905">Marquardt et al. (2020)</a> identified a heterozygous mutation (R423X; <a href="#0017">602671.0017</a>) in the SLC37A4 gene. The de novo mutation was identified by trio whole-exome sequencing. The mutation was predicted to remove an endoplasmic reticulum retention signal and expose a weak Golgi retention signal. Expression of the mutant protein in HepG2 cells and subsequent immunolocalization studies suggested that it mislocalized to the Golgi. The patient had a CDG type II glycosylation pattern on serum transferrin (<a href="/entry/190000">190000</a>) isoelectric focusing, and HPLC analysis of serum transferrin showed severe hypoglycosylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32884905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Wilson, M. P., Quelhas, D., Leao-Teles, E., Sturiale, L., Rymen, D., Keldermans, L., Race, V., Souche, E., Rodrigues, E., Campos, T., Van Schaftingen, E., Foulquier, F., Garozzo, D., Matthijs, G., Jaeken, J. <strong>SLC37A4-CDG: second patient.</strong> JIMD Rep. 58: 122-128, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33728255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33728255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33728255[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33728255">Wilson et al. (2021)</a> identified heterozygosity for the R423X mutation in a patient with CDG2W. The de novo mutation was identified by whole-exome sequencing and confirmed with Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33728255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Ng, B. G., Sosicka, P., Fenaille, F., Harroche, A., Vuillaumier-Barrot, S., Porterfield, M., Xia, Z.-J., Wagner, S., Bamshad, M. J., Vergnes-Boiteux, M.-C., Cholet, S., Dalton, S., and 21 others. <strong>A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.</strong> Am. J. Hum. Genet. 108: 1040-1052, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33964207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33964207</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33964207">Ng et al. (2021)</a> identified heterozygosity for the R423X mutation in 7 patients from 4 families, including a mother and son from one family and a mother, son, and daughter from another family, with CDG2W. Analysis of Huh7 cells expressing SLC37A4 with the R423X mutation showed that the mutant protein likely localized to an undefined intermediate subcompartment between the total ER and the cis-Golgi, leading to lowered Golgi pH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33964207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Hiraiwa, H., Pan, C.-J., Lin, B., Akiyama, T. E., Gonzalez, F. J., Chou, J. Y. <strong>A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1-alpha-null mice.</strong> J. Biol. Chem. 276: 7963-7967, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11121425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11121425</a>] [<a href="https://doi.org/10.1074/jbc.M010523200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11121425">Hiraiwa et al. (2001)</a> investigated whether there is a molecular link between HNF1-alpha (HNF1A; <a href="/entry/142410">142410</a>) deficiency and function of the G6Pase system. Transactivation studies revealed that HNF1A is required for transcription of the G6PT gene. Hepatic G6PT mRNA levels and microsomal G6P transport activity are also markedly reduced in Hnf1a -/- mice as compared with Hnf1a +/+ and Hnf1a +/- littermates. On the other hand, hepatic G6Pase mRNA expression and activity are upregulated in Hnf1a -/- mice, consistent with observations that G6Pase expression is increased in diabetic animals. Taken together, these results strongly suggest that metabolic abnormalities in Hnf1a-null mice are caused in part by G6PT deficiency and by perturbations of the G6Pase system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11121425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Chen, L.-Y., Shieh, J.-J., Lin, B., Pan, C.-J., Gao, J.-L., Murphy, P. M., Roe, T. F., Moses, S., Ward, J. M., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y. <strong>Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.</strong> Hum. Molec. Genet. 12: 2547-2558, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925567</a>] [<a href="https://doi.org/10.1093/hmg/ddg263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12925567">Chen et al. (2003)</a> generated a G6pt-knockout (G6pt -/-) mouse that mimicked all known defects of human GSD Ib. Neutropenia was caused directly by the loss of G6PT activity; chemotaxis and calcium flux, induced by the chemokines KC (MGSA; see <a href="/entry/155730">155730</a>) and macrophage inflammatory protein-2 (<a href="/entry/139110">139110</a>), were defective in G6pt -/- neutrophils; local production of these chemokines and the resultant neutrophil trafficking in vivo were depressed in G6pt -/- ascites during an inflammatory response. The bone and spleen of G6pt -/- mice were developmentally delayed and accompanied by marked hypocellularity of the bone marrow, elevation of myeloid progenitor cell frequencies in both organs, and a corresponding dramatic increase in granulocyte colony-stimulating factor (<a href="/entry/138970">138970</a>) levels in both GSD Ib mice and humans. The authors concluded that G6PT is not only a G6P transport protein, but is also an important immunomodulatory protein with a role in myeloid complications in GSD Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12925567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602671[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80356490 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356490;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80356490?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 22-year-old female patient with type Ib glycogen storage disease (GSD1B; <a href="/entry/232220">232220</a>), <a href="#7" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E. <strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong> FEBS Lett. 419: 235-238, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428641</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01463-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428641">Gerin et al. (1997)</a> demonstrated homozygosity for a gly339-to-cys (G339C) substitution in the glucose 6-phosphate transporter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908975 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908975;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908975?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007331</a>
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<p><a href="#7" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E. <strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong> FEBS Lett. 419: 235-238, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428641</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01463-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9428641">Gerin et al. (1997)</a> found that a 10-year-old female patient with type Ib glycogen storage disease (GSD1B; <a href="/entry/232220">232220</a>) was a compound heterozygote for the G339C substitution (<a href="#0001">602671.0001</a>) and a glu-355-to-ter (E355X) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80356489 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356489;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80356489?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007332 OR RCV000059128" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007332, RCV000059128" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007332...</a>
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<p>In 4 unrelated Japanese families with glycogen storage disease Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#18" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. <strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong> Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9675154">Kure et al. (1998)</a> found that a W118R missense mutation in the G6PT1 gene accounted for 4 of 8 mutant alleles. This same group (<a href="#11" class="mim-tip-reference" title="Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong> Am. J. Med. Genet. 86: 253-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482875</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482875">Hou et al., 1999</a>) reported that they found a total of 10 W118R alleles in 9 Japanese patients, suggesting that this is an unusually prevalent mutation in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9675154+10482875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLYCOGEN STORAGE DISEASE Ib</strong>
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SLC37A4, 4-BP DEL, 2-BP INS, NT1094
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2134631556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2134631556;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2134631556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2134631556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007333" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007333" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007333</a>
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<p>In a Japanese patient with glycogen storage disease Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#18" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. <strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong> Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9675154">Kure et al. (1998)</a> found homozygosity for a deletion/insertion mutation of the G6PT1 gene. GCTG at nucleotides 1094-1097 were deleted and replaced by TC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9675154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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SLC37A4, 170-BP DEL, NT148
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1943672400 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1943672400;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1943672400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1943672400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007344 OR RCV002223174 OR RCV002496291" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007344, RCV002223174, RCV002496291" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007344...</a>
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<p>In a Japanese patient with glycogen storage disease Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#18" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. <strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong> Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9675154">Kure et al. (1998)</a> found compound heterozygosity for the W118R mutation (<a href="#0003">602671.0003</a>) and a G-to-A substitution within a consensus splicing donor site, which resulted in deletion of 170 bp (nucleotides 148-317) and involved the initiation methionine codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9675154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a German patient with GSD Ic (GSD1C; <a href="/entry/232240">232240</a>), <a href="#15" class="mim-tip-reference" title="Janecke, A. R., Bosshard, N. U., Mayatepek, E., Schulze, A., Gitzelmann, R., Burchell, A., Bartram, C. R., Janssen, B. <strong>Molecular diagnosis of type 1c glycogen storage disease.</strong> Hum. Genet. 104: 275-277, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323254</a>] [<a href="https://doi.org/10.1007/s004390050948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10323254">Janecke et al. (1999)</a> identified the same mutation in homozygous state. Genomic sequencing revealed a homozygous 317+1G-T substitution within a consensus splicing donor site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80356491 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356491;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80356491?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007336 OR RCV000007337 OR RCV000601076 OR RCV000624535 OR RCV000723824 OR RCV002279712 OR RCV002476940 OR RCV004595875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007336, RCV000007337, RCV000601076, RCV000624535, RCV000723824, RCV002279712, RCV002476940, RCV004595875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007336...</a>
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<p>In 2 families, <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> found that patients with glycogen storage disease Ib (GSD1B; <a href="/entry/232220">232220</a>) were homozygous for a 2-bp deletion (1211-1212delCT) in the G6PT1 gene, resulting in a change in reading frame after ala347. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>This common frameshift mutation was reported by <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> to be present in 8 GSD Ib patients. In a Turkish patient with GSD Ic (GSD1C; <a href="/entry/232240">232240</a>), <a href="#15" class="mim-tip-reference" title="Janecke, A. R., Bosshard, N. U., Mayatepek, E., Schulze, A., Gitzelmann, R., Burchell, A., Bartram, C. R., Janssen, B. <strong>Molecular diagnosis of type 1c glycogen storage disease.</strong> Hum. Genet. 104: 275-277, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323254</a>] [<a href="https://doi.org/10.1007/s004390050948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10323254">Janecke et al. (1999)</a> identified the same mutation. Thus, GSD Ib and Ic result from the same mutation of the same gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9758626+10323254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782612223 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782612223;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782612223?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782612223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs782612223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001733377 OR RCV002274201" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001733377, RCV002274201" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001733377...</a>
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<p>In a Pakistani family in which <a href="#5" class="mim-tip-reference" title="Fenske, C. D., Jeffery, S., Weber, J. L., Houlston, R. S., Leonard, J. V., Lee, P. <strong>Localisation of the gene for glycogen storage disease type Ic by homozygosity mapping to 11q.</strong> J. Med. Genet. 35: 269-272, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598717</a>] [<a href="https://doi.org/10.1136/jmg.35.4.269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9598717">Fenske et al. (1998)</a> mapped the glycogen storage disease Ic (GSD1C; <a href="/entry/232240">232240</a>) locus to 11q23-q24.2, <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> demonstrated a splice site mutation at the exon 8/intron 8 junction in homozygous state in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9758626+9598717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908976 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908976;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908976?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007339 OR RCV000169480 OR RCV000779044" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007339, RCV000169480, RCV000779044" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007339...</a>
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<p>In a female patient with glycogen storage disease Ic (GSD1C; <a href="/entry/232240">232240</a>), <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> demonstrated compound heterozygosity for a trp96-to-ter (W96X) nonsense mutation and insertion of a 4-amino acid repeat after met311 (<a href="#0009">602671.0009</a>) of the G6PT1 gene. They found the latter mutation in compound heterozygous state in a patient diagnosed as GSD Ib (GSD1B; <a href="/entry/232220">232220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786204477 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204477;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs786204477?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786204477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs786204477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000169130 OR RCV002273969 OR RCV003407627" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169130, RCV002273969, RCV003407627" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169130...</a>
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<p>In 2 unrelated patients, 1 with glycogen storage disease Ib (GSD1B; <a href="/entry/232220">232220</a>) and 1 with GSD Ic (GSD1C; <a href="/entry/232240">232240</a>), <a href="#24" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. <strong>A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.</strong> Am. J. Hum. Genet. 63: 976-983, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758626</a>] [<a href="https://doi.org/10.1086/302068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758626">Veiga-da-Cunha et al. (1998)</a> observed compound heterozygosity for a 12-nucleotide insertion resulting in a 4-amino acid repeat inserted after met311. In the patient with GSD Ic, the mutation was combined with the missense mutation trp96 to ter (<a href="#0008">602671.0008</a>); in the patient with GSD Ib, the mutation was combined with a deletion causing a shift of reading frame after ala347. That mutation, due to deletion of nucleotides CT (1211-1212) (<a href="#0006">602671.0006</a>), was found in homozygosity in 2 families with GSD Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908977 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908977;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007342</a>
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<p>In a consanguineous family with GSD Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#11" class="mim-tip-reference" title="Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong> Am. J. Med. Genet. 86: 253-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482875</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482875">Hou et al. (1999)</a> identified a 3-bp deletion (val235del) in exon 2 of the G6PT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 GLYCOGEN STORAGE DISEASE Ib</strong>
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SLC37A4, IVS7, G-T, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1943574435 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1943574435;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1943574435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1943574435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007343" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007343" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007343</a>
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<p>In a nonconsanguineous family with GSD Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#11" class="mim-tip-reference" title="Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong> Am. J. Med. Genet. 86: 253-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482875</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482875">Hou et al. (1999)</a> identified a G-to-T change at position +1 of IVS7 of the G6PT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0012" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0012 GLYCOGEN STORAGE DISEASE Ib</strong>
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SLC37A4, IVS1, G-A, +1
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</div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007344 OR RCV002223174 OR RCV002496291" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007344, RCV002223174, RCV002496291" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007344...</a>
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<p><a href="#11" class="mim-tip-reference" title="Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong> Am. J. Med. Genet. 86: 253-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482875</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482875">Hou et al. (1999)</a> determined that a patient with GSD Ib (GSD1B; <a href="/entry/232220">232220</a>) was a compound heterozygote for the W118R mutation (<a href="#0003">602671.0003</a>) and a G-to-A change at position +1 in intron 1 of the G6PT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0013 GLYCOGEN STORAGE DISEASE Ib</strong>
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SLC37A4, ARG28HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908978 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908978;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908978?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007345 OR RCV000059144 OR RCV002482839" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007345, RCV000059144, RCV002482839" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007345...</a>
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</span>
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<span class="mim-text-font">
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<p>In 2 of 9 families with GSD Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#10" class="mim-tip-reference" title="Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W., Chou, J. Y. <strong>Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.</strong> J. Biol. Chem. 274: 5532-5536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10026167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10026167</a>] [<a href="https://doi.org/10.1074/jbc.274.9.5532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10026167">Hiraiwa et al. (1999)</a> identified a G-to-A transition at nucleotide 252 of the G6PT1 gene, resulting in an arg28-to-his (R28H) mutation. They demonstrated that this mutation resulted in inactive G6P transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10026167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 GLYCOGEN STORAGE DISEASE Ib</strong>
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</h4>
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SLC37A4, ARG415TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908979 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908979;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908979?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007346 OR RCV001196429 OR RCV002496292 OR RCV003989281" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007346, RCV001196429, RCV002496292, RCV003989281" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007346...</a>
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<span class="mim-text-font">
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<p>In patients with classic GSD type Ib (GSD1B; <a href="/entry/232220">232220</a>), <a href="#25" class="mim-tip-reference" title="Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., Lee, P. J., Leonard, J. V., Maire, I., Wendel, U., Vikkula, M., Van Schaftingen, E. <strong>The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.</strong> Europ. J. Hum. Genet. 7: 717-723, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482962</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482962">Veiga-da-Cunha et al. (1999)</a> reported a T-to-C transition at nucleotide 415 in exon 8 of the G6PT1 gene, resulting in an arg415-to-ter (R415X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 GLYCOGEN STORAGE DISEASE Ib</strong>
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</h4>
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SLC37A4, GLY339ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908980 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908980;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007347 OR RCV000059117 OR RCV002482840" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007347, RCV000059117, RCV002482840" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007347...</a>
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<span class="mim-text-font">
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<p>In a 25-year-old patient with glycogen storage disease type Ib (GSD1B; <a href="/entry/232220">232220</a>) based on enzymatic analysis but no evidence of neutropenia or recurrent infections, <a href="#17" class="mim-tip-reference" title="Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib without neutropenia.</strong> J. Pediat. 137: 253-256, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931421</a>] [<a href="https://doi.org/10.1067/mpd.2000.107472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10931421">Kure et al. (2000)</a> identified an arg415-to-ter mutation (R415X; <a href="/entry/606671#0014">606671.0014</a>), which has been reported in patients with neutropenia, in compound heterozygosity with a gly339-to-asp mutation (G339D) due to a G-to-A transition at nucleotide 1185 in exon 7 of the G6PT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 GLYCOGEN STORAGE DISEASE Ib</strong>
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</h4>
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SLC37A4, 794G-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1272300904 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1272300904;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1272300904?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1272300904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1272300904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007348" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007348" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007348</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 9-year-old patient with glycogen storage type Ib (GSD1B; <a href="/entry/232220">232220</a>) but no evidence of neutropenia or recurrent infections, <a href="#17" class="mim-tip-reference" title="Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib without neutropenia.</strong> J. Pediat. 137: 253-256, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931421</a>] [<a href="https://doi.org/10.1067/mpd.2000.107472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10931421">Kure et al. (2000)</a> identified homozygosity for a G-to-A transition at nucleotide 794 of the G6PT1 gene, which is the last nucleotide of exon 3, resulting in skipping of exon 3 in a proportion of amplified cDNA. <a href="#17" class="mim-tip-reference" title="Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y., Narisawa, K. <strong>Glycogen storage disease type Ib without neutropenia.</strong> J. Pediat. 137: 253-256, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931421</a>] [<a href="https://doi.org/10.1067/mpd.2000.107472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10931421">Kure et al. (2000)</a> suggested that the residual full-length allele spared the patient from the neutropenia and its complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2134626266 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2134626266;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2134626266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2134626266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001543403 OR RCV001647389 OR RCV002506653" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001543403, RCV001647389, RCV002506653" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001543403...</a>
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<p>In a patient with congenital disorder of glycosylation type IIw (CDG2W; <a href="/entry/619525">619525</a>), <a href="#21" class="mim-tip-reference" title="Marquardt, T., Bzduch, V., Hogrebe, M., Rust, S., Reunert, J., Gruneberg, M., Park, J., Callewaert, N., Lachmann, R., Wada, Y., Engel, T. <strong>SLC37A4-CDG: mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.</strong> Molec. Genet. Metab. Rep. 25: 100636, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32884905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32884905</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32884905[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgmr.2020.100636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32884905">Marquardt et al. (2020)</a> identified a heterozygous c.1267C-T transition in the SLC37A4 gene resulting in an arg423-to-ter (R423X) early termination. The de novo mutation was identified by trio whole-exome sequencing. The mutation was predicted to remove an ER retention signal and expose a weak Golgi retention signal. Expression of the mutant protein in HepG2 cells suggested that it mislocalized to the Golgi and led to significant changes in glycosylation, including reduced tetrasialotransferrin and increased polylactosamines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32884905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with CDG2W, <a href="#26" class="mim-tip-reference" title="Wilson, M. P., Quelhas, D., Leao-Teles, E., Sturiale, L., Rymen, D., Keldermans, L., Race, V., Souche, E., Rodrigues, E., Campos, T., Van Schaftingen, E., Foulquier, F., Garozzo, D., Matthijs, G., Jaeken, J. <strong>SLC37A4-CDG: second patient.</strong> JIMD Rep. 58: 122-128, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33728255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33728255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33728255[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33728255">Wilson et al. (2021)</a> identified heterozygosity for the c.1267C-T transition (c.1267C-T, NM_001164277.2) in the SLC37A4 gene resulting in R423X. The de novo mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient had a CDG type II glycosylation pattern on serum transferrin isoelectric focusing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33728255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 7 individuals from 4 families, including a mother and son from one family and a mother, son, and daughter from another family, <a href="#22" class="mim-tip-reference" title="Ng, B. G., Sosicka, P., Fenaille, F., Harroche, A., Vuillaumier-Barrot, S., Porterfield, M., Xia, Z.-J., Wagner, S., Bamshad, M. J., Vergnes-Boiteux, M.-C., Cholet, S., Dalton, S., and 21 others. <strong>A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.</strong> Am. J. Hum. Genet. 108: 1040-1052, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33964207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33964207</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33964207">Ng et al. (2021)</a> identified heterozygosity for the R423X mutation in the SLC37A4 gene. The mutations were identified by a combination of whole-genome sequencing, whole-exome sequencing, and Sanger sequencing. The mutation was absent from the gnomAD, DiscovEHR, and Geno2MP databases. iPSCs generated from one of the patients (patient 7) were differentiated into hepatocytes and shown to accumulate abnormal N-glycans. Analysis of Huh7 cells expressing SLC37A4 with the R423X mutation showed that the mutant protein likely localized to an undefined intermediate subcompartment between the total ER and the cis-Golgi, resulting in lowered Golgi pH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33964207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Belkaid, A., Copland, I. B., Massillon, D., Annabi, B.
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Chen, L.-Y., Lin, B., Pan, C.-J., Hiraiwa, H., Chou, J. Y.
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<strong>Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10940311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10940311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10940311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M006439200" target="_blank">Full Text</a>]
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Chen, L.-Y., Pan, C.-J., Shieh, J.-J., Chou, J. Y.
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<strong>Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12444104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12444104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12444104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chen, L.-Y., Shieh, J.-J., Lin, B., Pan, C.-J., Gao, J.-L., Murphy, P. M., Roe, T. F., Moses, S., Ward, J. M., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12925567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg263" target="_blank">Full Text</a>]
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Fenske, C. D., Jeffery, S., Weber, J. L., Houlston, R. S., Leonard, J. V., Lee, P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598717</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9598717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Galli, L., Orrico, A., Marcolongo, P., Fulceri, R., Burchell, A., Melis, D., Parini, R., Gatti, R., Lam, C.-W., Benedetti, A., Sorrentino, V.
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Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E.
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[<a href="https://doi.org/10.1074/jbc.M010523200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.274.9.5532" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050856" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005677912539" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000015167" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050948" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390000371" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mpd.2000.107472" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390000404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0014-5793(98)01129-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgmr.2020.100636" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2021.04.013" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.1816143116" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200366" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Wilson2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, M. P., Quelhas, D., Leao-Teles, E., Sturiale, L., Rymen, D., Keldermans, L., Race, V., Souche, E., Rodrigues, E., Campos, T., Van Schaftingen, E., Foulquier, F., Garozzo, D., Matthijs, G., Jaeken, J.
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<strong>SLC37A4-CDG: second patient.</strong>
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JIMD Rep. 58: 122-128, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33728255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33728255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33728255[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33728255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jmd2.12195" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/10/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/04/2020<br>Patricia A. Hartz - updated : 2/13/2009<br>George E. Tiller - updated : 9/12/2005<br>George E. Tiller - updated : 9/2/2004<br>Ada Hamosh - updated : 3/4/2004<br>Victor A. McKusick - updated : 2/5/2002<br>Ada Hamosh - updated : 4/20/2001<br>Victor A. McKusick - updated : 12/19/2000<br>Ada Hamosh - updated : 10/31/2000<br>Victor A. McKusick - updated : 10/3/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 11/8/1999<br>Victor A. McKusick - updated : 10/21/1999<br>Victor A. McKusick - updated : 4/26/1999<br>Carol A. Bocchini - updated : 4/5/1999<br>Ada Hamosh - updated : 3/10/1999<br>Victor A. McKusick - updated : 10/22/1998<br>Victor A. McKusick - updated : 9/2/1998
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jennifer P. Macke : 5/30/1998
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</span>
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</div>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/10/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 11/04/2020<br>mcolton : 04/29/2014<br>mcolton : 4/28/2014<br>terry : 11/29/2012<br>carol : 5/8/2009<br>carol : 5/8/2009<br>mgross : 2/17/2009<br>terry : 2/13/2009<br>alopez : 10/20/2005<br>terry : 9/12/2005<br>carol : 9/3/2004<br>terry : 9/2/2004<br>carol : 3/4/2004<br>terry : 3/4/2004<br>mgross : 2/19/2002<br>terry : 2/5/2002<br>alopez : 4/30/2001<br>terry : 4/20/2001<br>mcapotos : 1/4/2001<br>mcapotos : 1/3/2001<br>terry : 12/19/2000<br>mgross : 11/2/2000<br>mgross : 11/2/2000<br>terry : 10/31/2000<br>mcapotos : 10/12/2000<br>mcapotos : 10/9/2000<br>terry : 10/3/2000<br>mcapotos : 1/28/2000<br>mcapotos : 1/24/2000<br>terry : 1/19/2000<br>alopez : 11/12/1999<br>terry : 11/8/1999<br>carol : 10/25/1999<br>terry : 10/21/1999<br>mgross : 5/7/1999<br>mgross : 4/29/1999<br>terry : 4/26/1999<br>mgross : 4/7/1999<br>carol : 4/5/1999<br>alopez : 3/11/1999<br>alopez : 3/10/1999<br>carol : 10/26/1998<br>terry : 10/22/1998<br>carol : 9/8/1998<br>alopez : 9/2/1998<br>alopez : 8/3/1998<br>alopez : 8/3/1998<br>alopez : 7/17/1998<br>alopez : 6/1/1998
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602671
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1<br />
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GLUCOSE-6-PHOSPHATE TRANSLOCASE<br />
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G6P TRANSLOCASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC37A4</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 237965005, 30102006;
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</span>
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</p>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:119,024,112-119,030,877 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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11q23.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type IIw
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</span>
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</td>
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<td>
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<span class="mim-font">
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619525
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Glycogen storage disease Ib
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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232220
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Glycogen storage disease Ic
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
232240
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>G6PT1 regulates the rate-limiting step of glucose-6-phosphate (G6P) transport through the endoplasmic reticulum (ER) membrane. It also functions in ATP-mediated calcium sequestration in the ER lumen and as a G6P receptor/sensor (Belkaid et al., 2006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Gerin et al. (1997) isolated a cDNA from a human bladder tumor cDNA library. The cDNA predicted a 429-amino acid protein with a calculated molecular mass of 46 kD. The protein contains a putative signal for retention in the endoplasmic reticulum. Its nearest homolog was the bacterial gene UhpC, an E. coli glucose-6-phosphate receptor. Northern blot analysis revealed a 2.0-kb mRNA in human liver. The authors concluded that this gene is likely to be a human glucose-6-phosphate translocase. </p><p>Using Northern blot analysis, Gerin et al. (1999) detected a G6PT1 transcript of about 2.4 kb in liver and kidney, with weaker expression in leukocytes. They identified a G6PT1 splice variant containing exon 7 in fetal brain EST libraries. Exon 7 introduces 22 amino acids into the luminal loop between transmembrane helices 9 and 10. PCR analysis did not detect the exon 7-containing variant in liver, kidney, or leukocyte mRNA. PCR analysis of mouse tissues revealed exon 7-containing transcripts in brain and heart, but not in liver, kidney, lung, or spleen. In mouse, exon 7 encodes 20 amino acids. </p><p>Ihara et al. (2000) investigated the quantitative expression of the G6PT1 gene and its splice variants in human tissues. The G6PT1 gene was strongly expressed in liver, kidney, and hematopoietic progenitor cells. RT-PCR amplification of G6PT1 cDNA revealed tissue-specific expression of several splice variants. The exon 7-containing brain isoform was also identified in heart and skeletal muscle. </p>
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|
</span>
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Ihara et al. (1998) determined that the G6P translocase gene spans approximately 5 kb and contains 8 exons. Marcolongo et al. (1998) determined that the G6PT1 gene contains 9 exons and spans about 4 kb. Hou et al. (1999) found that the G6PT1 gene spans 4.5 kb and that all exon/intron boundaries adhere to the canonical ag/gt rule. Gerin et al. (1999) and Hiraiwa et al. (1999) determined that the G6PT1 gene contains 9 exons, and Hiraiwa et al. (1999) determined that the G6PT gene spans 5.3 kb. </p><p>Gerin et al. (1999) identified an upstream TATA box and 2 main transcriptional start sites at about -100 and -200 nt with respect to the initiator ATG. They also found 3 Alu sequences at about -3400, -2800, and -1800 nt with respect to the initiator ATG. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Kure et al. (1998) mapped the G6PT1 gene to chromosome 11 by study of a DNA panel of human/hamster hybrid cells. Veiga-da-Cunha et al. (1998) used radiation hybrid analysis to map the G6PT1 gene to chromosome 11q23. By fluorescence in situ hybridization, Ihara et al. (1998) refined the localization of the G6PT1 gene to chromosome 11q23.3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lin et al. (2000) showed that the exon 7-containing G6PT splice variant, which they designated vG6PT, was active in microsomal G6P transport. They raised the possibility that mutations in exon 7 of the G6PT gene, which would not perturb glucose homeostasis, might have other deleterious effects. </p><p>Using small interfering RNA, Belkaid et al. (2006) found that silencing G6PT induced necrosis and late apoptosis in brain tumor-derived U87 glioma cells. The anticancer drug curcumin, which regulates key enzymes involved in carbohydrate metabolism, inhibited G6PT expression by more than 90% and triggered U87 cell death. Overexpression of G6PT rescued cells from curcumin-induced cell death. </p><p>Using a combination of enzymologic, cell-culture, and in vivo approaches, Veiga-da-Cunha et al. (2019) demonstrated that G6PT and G6PC3 (611045) collaborate to destroy 1,5-anhydroglucitol-6-phosphate (1,5AG6P), a close structural analog of glucose-6-phosphate and an inhibitor of low-Km hexokinases, which catalyze the first step in glycolysis in most tissues. Veiga-da-Cunha et al. (2019) showed that 1,5AG6P is made by phosphorylation of 1,5-anhydroglucitol (1,5AG), a compound normally present in human plasma, by side activities of ADP-glucokinase and low-Km hexokinases. </p>
|
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</span>
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<span class="mim-text-font">
|
|
<p><strong><em>Glycogen Storage Disease Ib, Ic, Id</em></strong></p><p>
|
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In 4 unrelated Japanese families with glycogen storage disease Ib (GSD1B; 232220), Kure et al. (1998) identified 3 novel mutations in the G6PT1 gene; the W118R mutation (602671.0003) accounted for 4 of 8 mutant alleles, suggesting that it is particularly prevalent among Japanese patients. Ihara et al. (1998) also reported 2 novel mutations in a Japanese patient. </p><p>In 2 patients with glycogen storage disease Ib, Gerin et al. (1997) found 2 mutations in the putative glucose-6-phosphate translocase. One patient was homozygous for a gly339-to-cys substitution (602671.0001). The other patient was a compound heterozygote for the gly339-to-cys mutation and a glu355-to-ter (602671.0002) mutation. Both patients showed typical clinical and laboratory findings of GSD Ib, including neutropenia. Neither mutation was present in 4 normal controls. </p><p>Veiga-da-Cunha et al. (1998) showed that mutations in the G6PT1 gene account for GSD types Ib and Ic (GSD1C; 232240). Using SSCP analysis and sequencing, they screened this gene for mutations in genomic DNA from 22 families with GSD types Ib and Ic. Of 20 mutations found, 11 resulted in truncated proteins that were probably nonfunctional. Most other mutations resulted in substitutions of conserved or semiconserved residues. The 2 most common mutations, gly339 to cys and 1211-1212delCT (602671.0006), together accounted for approximately 40% of the disease alleles. The fact that the same mutations were found in GSD types Ib and Ic could indicate either that Pi and glucose-6-phosphate are transported in microsomes by the same transporter or that the biochemical assays used to differentiate Pi and glucose-6-phosphate transport defects are not reliable. </p><p>In 12 of the 22 families investigated by Veiga-da-Cunha et al. (1998), patients were homozygous for the identified mutation of the G6PT1 gene. In 4 of these families the parents were consanguineous. In 7 of the 10 families in which the patients showed compound heterozygosity, the availability of parental DNA enabled them to show that the 2 mutations were on different chromosomes. </p><p>Hiraiwa et al. (1999) identified mutations in the G6PT gene that segregated with GSD Ib. They functionally characterized the recombinant G6PT and demonstrated that mutations found in GSD Ib patients disrupt G6P transport. Hiraiwa et al. (1999) stated that this was the first definition of a molecular basis for functional deficiency in GSD Ib and raised the possibility that defective G6PT contributes to neutropenia and neutrophil/monocyte dysfunctions characteristic of GSD Ib patients. </p><p>Hou et al. (1999) studied 5 Japanese patients with GSD type Ib. Two novel homozygous mutations were identified in 2 families: a 3-bp deletion (V235del) in exon 2 in a consanguineous family and a splicing mutation (IVS7DS+1G-T) in intron 7 in a nonconsanguineous family. Two patients were homozygotes for W118R. A fifth patient was a compound heterozygote for W118R and IVS1DS+1G-A. Including their previous study (Kure et al., 1998), this group found a total of 10 W118R alleles in 9 Japanese patients. </p><p>Veiga-da-Cunha et al. (1999) analyzed 23 additional families diagnosed as having GSD I non-a (i.e., GSD Ib, Ic, Id). The 9 exons of the G6PT1 gene were amplified by PCR and mutations sought both by SSCP and heteroduplex analysis. Except for one family in which only 1 mutation was found, all patients had 2 allelic mutations in the gene encoding the putative translocase. The mutations were new in 16 and they all were predicted to result in nonfunctional proteins. All investigated patients had some degree of neutropenia or neutrophil dysfunction, and the clinical phenotype of 4 new patients who had been diagnosed as GSD Ic and the one diagnosed as GSD Id was no different from that of the GSD Ib patients. Since these patients, and the 4 type Ic patients from 2 families previously studied, shared several mutations with GSD Ib patients, Veiga-da-Cunha et al. (1999) concluded that their basic defect is in the putative translocase and that they should be reclassified as GSD Ib. Isolated defects in microsomal Pi transporter or in microsomal glucose transporter must be very rare or have phenotypes that are not recognized as GSD I, so that in practice there are only 2 subtypes of GSD I (Ia and Ib). </p><p>Galli et al. (1999) reported on the analysis by SSCP and/or DNA sequencing of the exons of the G6PT gene in 14 patients diagnosed as affected with either the GSD Ib or GSD Ic subtype. Mutations in the G6PT gene were found in all patients. Four of the mutations were novel. The results confirmed that the Ib and Ic forms are due to mutations in the same gene. Galli et al. (1999) also showed that the same kind of mutation may or may not be associated with evident clinical complications such as neutrophil impairment. There was no correlation between the type and position of the mutation and the severity of the disease, including the presence of neutropenia. </p><p>Janecke et al. (2000) studied 13 patients with glycogen storage disease type I non-A. Analysis of the G6PT gene revealed mutations on both chromosomes in each case, 4 of which were novel. </p><p>Chen et al. (2000) demonstrated that 15 missense mutations and a codon deletion mutation abolished microsomal G6P uptake activity and that 2 splicing mutations caused exon skipping in the G6PT gene in patients with glycogen storage disease Ib. Mutation analysis elucidated the structural requirements for stability and transport activity of the G6PT protein. </p><p>Using an assay based on an adenoviral vector-mediated expression system, Chen et al. (2002) functionally characterized all 30 codon mutations found in GSD Ib patients. Twenty of the naturally occurring mutations completely abolished microsomal G6P uptake activity, whereas the other 10 mutations (including 5 previously characterized) partially inactivated the transporter. The authors also demonstrated that 5 of the mutations, including val235del (602671.0010), G339C (602671.0001), and G339D (602671.0015), also compromised G6PT stability. The N-terminal domain of G6PT was required for optimal G6P uptake activity. Degradation of both wildtype and mutant G6PT was inhibited by the proteasome inhibitor lactacystin, demonstrating that G6PT is a substrate for proteasome-mediated degradation. </p><p><strong><em>Congenital Disorder of Glycosylation, Type IIw</em></strong></p><p>
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In a patient with CDG2W, Marquardt et al. (2020) identified a heterozygous mutation (R423X; 602671.0017) in the SLC37A4 gene. The de novo mutation was identified by trio whole-exome sequencing. The mutation was predicted to remove an endoplasmic reticulum retention signal and expose a weak Golgi retention signal. Expression of the mutant protein in HepG2 cells and subsequent immunolocalization studies suggested that it mislocalized to the Golgi. The patient had a CDG type II glycosylation pattern on serum transferrin (190000) isoelectric focusing, and HPLC analysis of serum transferrin showed severe hypoglycosylation. </p><p>Wilson et al. (2021) identified heterozygosity for the R423X mutation in a patient with CDG2W. The de novo mutation was identified by whole-exome sequencing and confirmed with Sanger sequencing. </p><p>Ng et al. (2021) identified heterozygosity for the R423X mutation in 7 patients from 4 families, including a mother and son from one family and a mother, son, and daughter from another family, with CDG2W. Analysis of Huh7 cells expressing SLC37A4 with the R423X mutation showed that the mutant protein likely localized to an undefined intermediate subcompartment between the total ER and the cis-Golgi, leading to lowered Golgi pH. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hiraiwa et al. (2001) investigated whether there is a molecular link between HNF1-alpha (HNF1A; 142410) deficiency and function of the G6Pase system. Transactivation studies revealed that HNF1A is required for transcription of the G6PT gene. Hepatic G6PT mRNA levels and microsomal G6P transport activity are also markedly reduced in Hnf1a -/- mice as compared with Hnf1a +/+ and Hnf1a +/- littermates. On the other hand, hepatic G6Pase mRNA expression and activity are upregulated in Hnf1a -/- mice, consistent with observations that G6Pase expression is increased in diabetic animals. Taken together, these results strongly suggest that metabolic abnormalities in Hnf1a-null mice are caused in part by G6PT deficiency and by perturbations of the G6Pase system. </p><p>Chen et al. (2003) generated a G6pt-knockout (G6pt -/-) mouse that mimicked all known defects of human GSD Ib. Neutropenia was caused directly by the loss of G6PT activity; chemotaxis and calcium flux, induced by the chemokines KC (MGSA; see 155730) and macrophage inflammatory protein-2 (139110), were defective in G6pt -/- neutrophils; local production of these chemokines and the resultant neutrophil trafficking in vivo were depressed in G6pt -/- ascites during an inflammatory response. The bone and spleen of G6pt -/- mice were developmentally delayed and accompanied by marked hypocellularity of the bone marrow, elevation of myeloid progenitor cell frequencies in both organs, and a corresponding dramatic increase in granulocyte colony-stimulating factor (138970) levels in both GSD Ib mice and humans. The authors concluded that G6PT is not only a G6P transport protein, but is also an important immunomodulatory protein with a role in myeloid complications in GSD Ib. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>17 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, GLY339CYS
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<br />
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SNP: rs80356490,
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gnomAD: rs80356490,
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ClinVar: RCV000007330, RCV000059116
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 22-year-old female patient with type Ib glycogen storage disease (GSD1B; 232220), Gerin et al. (1997) demonstrated homozygosity for a gly339-to-cys (G339C) substitution in the glucose 6-phosphate transporter. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, GLU355TER
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<br />
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SNP: rs121908975,
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gnomAD: rs121908975,
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ClinVar: RCV000007331
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Gerin et al. (1997) found that a 10-year-old female patient with type Ib glycogen storage disease (GSD1B; 232220) was a compound heterozygote for the G339C substitution (602671.0001) and a glu-355-to-ter (E355X) mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, TRP118ARG
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<br />
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SNP: rs80356489,
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gnomAD: rs80356489,
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ClinVar: RCV000007332, RCV000059128
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 unrelated Japanese families with glycogen storage disease Ib (GSD1B; 232220), Kure et al. (1998) found that a W118R missense mutation in the G6PT1 gene accounted for 4 of 8 mutant alleles. This same group (Hou et al., 1999) reported that they found a total of 10 W118R alleles in 9 Japanese patients, suggesting that this is an unusually prevalent mutation in Japan. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, 4-BP DEL, 2-BP INS, NT1094
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<br />
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SNP: rs2134631556,
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ClinVar: RCV000007333
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with glycogen storage disease Ib (GSD1B; 232220), Kure et al. (1998) found homozygosity for a deletion/insertion mutation of the G6PT1 gene. GCTG at nucleotides 1094-1097 were deleted and replaced by TC. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GLYCOGEN STORAGE DISEASE Ic, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, 170-BP DEL, NT148
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<br />
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SNP: rs1943672400,
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ClinVar: RCV000007344, RCV002223174, RCV002496291
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with glycogen storage disease Ib (GSD1B; 232220), Kure et al. (1998) found compound heterozygosity for the W118R mutation (602671.0003) and a G-to-A substitution within a consensus splicing donor site, which resulted in deletion of 170 bp (nucleotides 148-317) and involved the initiation methionine codon. </p><p>In a German patient with GSD Ic (GSD1C; 232240), Janecke et al. (1999) identified the same mutation in homozygous state. Genomic sequencing revealed a homozygous 317+1G-T substitution within a consensus splicing donor site. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GLYCOGEN STORAGE DISEASE Ic, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, 2-BP DEL, 1211CT
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<br />
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SNP: rs80356491,
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gnomAD: rs80356491,
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ClinVar: RCV000007336, RCV000007337, RCV000601076, RCV000624535, RCV000723824, RCV002279712, RCV002476940, RCV004595875
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 families, Veiga-da-Cunha et al. (1998) found that patients with glycogen storage disease Ib (GSD1B; 232220) were homozygous for a 2-bp deletion (1211-1212delCT) in the G6PT1 gene, resulting in a change in reading frame after ala347. </p><p>This common frameshift mutation was reported by Veiga-da-Cunha et al. (1998) to be present in 8 GSD Ib patients. In a Turkish patient with GSD Ic (GSD1C; 232240), Janecke et al. (1999) identified the same mutation. Thus, GSD Ib and Ic result from the same mutation of the same gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0007 GLYCOGEN STORAGE DISEASE Ic</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, IVS8, 4-BP DEL
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<br />
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SNP: rs782612223,
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gnomAD: rs782612223,
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ClinVar: RCV001733377, RCV002274201
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Pakistani family in which Fenske et al. (1998) mapped the glycogen storage disease Ic (GSD1C; 232240) locus to 11q23-q24.2, Veiga-da-Cunha et al. (1998) demonstrated a splice site mutation at the exon 8/intron 8 junction in homozygous state in affected individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 GLYCOGEN STORAGE DISEASE Ic</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, TRP96TER
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<br />
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SNP: rs121908976,
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gnomAD: rs121908976,
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ClinVar: RCV000007339, RCV000169480, RCV000779044
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female patient with glycogen storage disease Ic (GSD1C; 232240), Veiga-da-Cunha et al. (1998) demonstrated compound heterozygosity for a trp96-to-ter (W96X) nonsense mutation and insertion of a 4-amino acid repeat after met311 (602671.0009) of the G6PT1 gene. They found the latter mutation in compound heterozygous state in a patient diagnosed as GSD Ib (GSD1B; 232220). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GLYCOGEN STORAGE DISEASE Ic, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, 12-BP INS, NT1103
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<br />
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SNP: rs786204477,
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gnomAD: rs786204477,
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ClinVar: RCV000169130, RCV002273969, RCV003407627
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated patients, 1 with glycogen storage disease Ib (GSD1B; 232220) and 1 with GSD Ic (GSD1C; 232240), Veiga-da-Cunha et al. (1998) observed compound heterozygosity for a 12-nucleotide insertion resulting in a 4-amino acid repeat inserted after met311. In the patient with GSD Ic, the mutation was combined with the missense mutation trp96 to ter (602671.0008); in the patient with GSD Ib, the mutation was combined with a deletion causing a shift of reading frame after ala347. That mutation, due to deletion of nucleotides CT (1211-1212) (602671.0006), was found in homozygosity in 2 families with GSD Ib. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0010 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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|
</div>
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<div>
|
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<span class="mim-text-font">
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SLC37A4, VAL235DEL
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<br />
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SNP: rs121908977,
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ClinVar: RCV000007342
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a consanguineous family with GSD Ib (GSD1B; 232220), Hou et al. (1999) identified a 3-bp deletion (val235del) in exon 2 of the G6PT1 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0011 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, IVS7, G-T, +1
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<br />
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SNP: rs1943574435,
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ClinVar: RCV000007343
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a nonconsanguineous family with GSD Ib (GSD1B; 232220), Hou et al. (1999) identified a G-to-T change at position +1 of IVS7 of the G6PT1 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0012 GLYCOGEN STORAGE DISEASE Ib</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC37A4, IVS1, G-A, +1
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<br />
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ClinVar: RCV000007344, RCV002223174, RCV002496291
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Hou et al. (1999) determined that a patient with GSD Ib (GSD1B; 232220) was a compound heterozygote for the W118R mutation (602671.0003) and a G-to-A change at position +1 in intron 1 of the G6PT1 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0013 GLYCOGEN STORAGE DISEASE Ib</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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SLC37A4, ARG28HIS
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<br />
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|
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SNP: rs121908978,
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|
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gnomAD: rs121908978,
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ClinVar: RCV000007345, RCV000059144, RCV002482839
|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 of 9 families with GSD Ib (GSD1B; 232220), Hiraiwa et al. (1999) identified a G-to-A transition at nucleotide 252 of the G6PT1 gene, resulting in an arg28-to-his (R28H) mutation. They demonstrated that this mutation resulted in inactive G6P transport. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GLYCOGEN STORAGE DISEASE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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SLC37A4, ARG415TER
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<br />
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SNP: rs121908979,
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gnomAD: rs121908979,
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ClinVar: RCV000007346, RCV001196429, RCV002496292, RCV003989281
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In patients with classic GSD type Ib (GSD1B; 232220), Veiga-da-Cunha et al. (1999) reported a T-to-C transition at nucleotide 415 in exon 8 of the G6PT1 gene, resulting in an arg415-to-ter (R415X) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 GLYCOGEN STORAGE DISEASE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC37A4, GLY339ASP
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<br />
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|
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SNP: rs121908980,
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|
|
ClinVar: RCV000007347, RCV000059117, RCV002482840
|
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|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 25-year-old patient with glycogen storage disease type Ib (GSD1B; 232220) based on enzymatic analysis but no evidence of neutropenia or recurrent infections, Kure et al. (2000) identified an arg415-to-ter mutation (R415X; 606671.0014), which has been reported in patients with neutropenia, in compound heterozygosity with a gly339-to-asp mutation (G339D) due to a G-to-A transition at nucleotide 1185 in exon 7 of the G6PT1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 GLYCOGEN STORAGE DISEASE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC37A4, 794G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1272300904,
|
|
|
|
|
|
gnomAD: rs1272300904,
|
|
|
|
|
|
ClinVar: RCV000007348
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old patient with glycogen storage type Ib (GSD1B; 232220) but no evidence of neutropenia or recurrent infections, Kure et al. (2000) identified homozygosity for a G-to-A transition at nucleotide 794 of the G6PT1 gene, which is the last nucleotide of exon 3, resulting in skipping of exon 3 in a proportion of amplified cDNA. Kure et al. (2000) suggested that the residual full-length allele spared the patient from the neutropenia and its complications. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC37A4, ARG423TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2134626266,
|
|
|
|
|
|
|
|
ClinVar: RCV001543403, RCV001647389, RCV002506653
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type IIw (CDG2W; 619525), Marquardt et al. (2020) identified a heterozygous c.1267C-T transition in the SLC37A4 gene resulting in an arg423-to-ter (R423X) early termination. The de novo mutation was identified by trio whole-exome sequencing. The mutation was predicted to remove an ER retention signal and expose a weak Golgi retention signal. Expression of the mutant protein in HepG2 cells suggested that it mislocalized to the Golgi and led to significant changes in glycosylation, including reduced tetrasialotransferrin and increased polylactosamines. </p><p>In a patient with CDG2W, Wilson et al. (2021) identified heterozygosity for the c.1267C-T transition (c.1267C-T, NM_001164277.2) in the SLC37A4 gene resulting in R423X. The de novo mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient had a CDG type II glycosylation pattern on serum transferrin isoelectric focusing. </p><p>In 7 individuals from 4 families, including a mother and son from one family and a mother, son, and daughter from another family, Ng et al. (2021) identified heterozygosity for the R423X mutation in the SLC37A4 gene. The mutations were identified by a combination of whole-genome sequencing, whole-exome sequencing, and Sanger sequencing. The mutation was absent from the gnomAD, DiscovEHR, and Geno2MP databases. iPSCs generated from one of the patients (patient 7) were differentiated into hepatocytes and shown to accumulate abnormal N-glycans. Analysis of Huh7 cells expressing SLC37A4 with the R423X mutation showed that the mutant protein likely localized to an undefined intermediate subcompartment between the total ER and the cis-Golgi, resulting in lowered Golgi pH. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Belkaid, A., Copland, I. B., Massillon, D., Annabi, B.
|
|
<strong>Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.</strong>
|
|
FEBS Lett. 580: 3746-3752, 2006.
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|
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|
|
|
[PubMed: 16777101]
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|
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[Full Text: https://doi.org/10.1016/j.febslet.2006.05.071]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, L.-Y., Lin, B., Pan, C.-J., Hiraiwa, H., Chou, J. Y.
|
|
<strong>Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.</strong>
|
|
J. Biol. Chem. 275: 34280-34286, 2000.
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|
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|
|
[PubMed: 10940311]
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[Full Text: https://doi.org/10.1074/jbc.M006439200]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, L.-Y., Pan, C.-J., Shieh, J.-J., Chou, J. Y.
|
|
<strong>Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.</strong>
|
|
Hum. Molec. Genet. 11: 3199-3207, 2002.
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[PubMed: 12444104]
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[Full Text: https://doi.org/10.1093/hmg/11.25.3199]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, L.-Y., Shieh, J.-J., Lin, B., Pan, C.-J., Gao, J.-L., Murphy, P. M., Roe, T. F., Moses, S., Ward, J. M., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y.
|
|
<strong>Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.</strong>
|
|
Hum. Molec. Genet. 12: 2547-2558, 2003.
|
|
|
|
|
|
[PubMed: 12925567]
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[Full Text: https://doi.org/10.1093/hmg/ddg263]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Fenske, C. D., Jeffery, S., Weber, J. L., Houlston, R. S., Leonard, J. V., Lee, P.
|
|
<strong>Localisation of the gene for glycogen storage disease type Ic by homozygosity mapping to 11q.</strong>
|
|
J. Med. Genet. 35: 269-272, 1998.
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|
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|
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[PubMed: 9598717]
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[Full Text: https://doi.org/10.1136/jmg.35.4.269]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Galli, L., Orrico, A., Marcolongo, P., Fulceri, R., Burchell, A., Melis, D., Parini, R., Gatti, R., Lam, C.-W., Benedetti, A., Sorrentino, V.
|
|
<strong>Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.</strong>
|
|
FEBS Lett. 459: 255-258, 1999.
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|
|
|
|
[PubMed: 10518030]
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|
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|
|
[Full Text: https://doi.org/10.1016/s0014-5793(99)01248-x]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E.
|
|
<strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong>
|
|
FEBS Lett. 419: 235-238, 1997.
|
|
|
|
|
|
[PubMed: 9428641]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/s0014-5793(97)01463-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gerin, I., Veiga-da-Cunha, M., Noel, G., Van Schaftingen, E.
|
|
<strong>Structure of the gene mutated in glycogen storage disease type Ib.</strong>
|
|
Gene 227: 189-195, 1999.
|
|
|
|
|
|
[PubMed: 10023055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0378-1119(98)00614-3]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hiraiwa, H., Pan, C.-J., Lin, B., Akiyama, T. E., Gonzalez, F. J., Chou, J. Y.
|
|
<strong>A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1-alpha-null mice.</strong>
|
|
J. Biol. Chem. 276: 7963-7967, 2001.
|
|
|
|
|
|
[PubMed: 11121425]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M010523200]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W., Chou, J. Y.
|
|
<strong>Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.</strong>
|
|
J. Biol. Chem. 274: 5532-5536, 1999.
|
|
|
|
|
|
[PubMed: 10026167]
|
|
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|
|
[Full Text: https://doi.org/10.1074/jbc.274.9.5532]
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hou, D.-C., Kure, S., Suzuki, Y., Hasegawa, Y., Hara, Y., Inoue, T., Kida, Y., Matsubara, Y., Narisawa, K.
|
|
<strong>Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.</strong>
|
|
Am. J. Med. Genet. 86: 253-257, 1999.
|
|
|
|
|
|
[PubMed: 10482875]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ihara, K., Kuromaru, R., Hara, T.
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Marquardt, T., Bzduch, V., Hogrebe, M., Rust, S., Reunert, J., Gruneberg, M., Park, J., Callewaert, N., Lachmann, R., Wada, Y., Engel, T.
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Ng, B. G., Sosicka, P., Fenaille, F., Harroche, A., Vuillaumier-Barrot, S., Porterfield, M., Xia, Z.-J., Wagner, S., Bamshad, M. J., Vergnes-Boiteux, M.-C., Cholet, S., Dalton, S., and 21 others.
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<strong>A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.</strong>
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<strong>The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.</strong>
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Wilson, M. P., Quelhas, D., Leao-Teles, E., Sturiale, L., Rymen, D., Keldermans, L., Race, V., Souche, E., Rodrigues, E., Campos, T., Van Schaftingen, E., Foulquier, F., Garozzo, D., Matthijs, G., Jaeken, J.
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