3572 lines
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Entry
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- *611045 - GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*611045</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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611045">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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<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="panel-title">
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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=ENSG00000141349;t=ENST00000269097" 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=92579" 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=611045" 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 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=ENSG00000141349;t=ENST00000269097" 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 (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001319945,NM_001384165,NM_001384166,NM_001384167,NM_001384168,NM_138387,XM_011525474" 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://www.ncbi.nlm.nih.gov/nuccore/NM_138387" 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 (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611045" 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=13556&isoform_id=13556_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/G6PC3" 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/18204315,24308434,37589867,74733234,119572021,119572022,119572023,767996488,985801711,1847914496,1847916413,1847916922,1848051994,2462558783" 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/Q9BUM1" 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=92579" 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=ENSG00000141349;t=ENST00000269097" 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=G6PC3" 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=G6PC3" 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+92579" 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/G6PC3" 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:92579" 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/92579" 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=chr17&hgg_gene=ENST00000269097.9&hgg_start=44070673&hgg_end=44076344&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:24861" 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://search.clinicalgenome.org/kb/genes/HGNC:24861" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611045[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=611045[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://gnomad.broadinstitute.org/gene/ENSG00000141349" 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=G6PC3" 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=G6PC3" 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=G6PC3" 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=G6PC3&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/PA134968446" 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:24861" 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://flybase.org/reports/FBgn0031463.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1915651" 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/G6PC3#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:1915651" 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/92579/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=92579" 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="https://zfin.org/ZDB-GENE-061215-19" 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="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:92579" 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=G6PC3&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> 783058007<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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611045
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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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GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3
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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>
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<h4>
|
|
<span class="mim-font">
|
|
UBIQUITOUS GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; UGRP<br />
|
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GLUCOSE-6-PHOSPHATASE, BETA<br />
|
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G6Pase-BETA
|
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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>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=G6PC3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">G6PC3</a></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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<a id="cytogeneticLocation" class="mim-anchor"></a>
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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: <a href="/geneMap/17/628?start=-3&limit=10&highlight=628">17q21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:44070673-44076344&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'})">17:44,070,673-44,076,344</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover 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="2">
|
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<span class="mim-font">
|
|
<a href="/geneMap/17/628?start=-3&limit=10&highlight=628">
|
|
17q21.31
|
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</a>
|
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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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Dursun syndrome
|
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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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|
<a href="/entry/612541"> 612541 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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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">
|
|
Neutropenia, severe congenital 4, 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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<a href="/entry/612541"> 612541 </a>
|
|
|
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
|
</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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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611045" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>Glucose-6-phosphatase (G6Pase) is located in the endoplasmic reticulum (ER) and catalyzes hydrolysis of G6P to glucose and phosphate, the last step of the gluconeogenic and glycogenolytic pathways. G6PC3 is a ubiquitously expressed G6Pase catalytic subunit (<a href="#8" class="mim-tip-reference" title="Martin, C. C., Oeser, J. K., Svitek, C. A., Hunter, S. I., Hutton, J. C., O'Brien, R. M. <strong>Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.</strong> J. Molec. Endocr. 29: 205-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12370122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12370122</a>] [<a href="https://doi.org/10.1677/jme.0.0290205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12370122">Martin et al., 2002</a>; <a href="#6" class="mim-tip-reference" title="Guionie, O., Clottes, E., Stafford, K., Burchell, A. <strong>Identification and characterisation of a new human glucose-6-phosphatase isoform.</strong> FEBS Lett. 551: 159-164, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12965222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12965222</a>] [<a href="https://doi.org/10.1016/s0014-5793(03)00903-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12965222">Guionie et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12965222+12370122" 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>By searching databases for homologs of IGRP (G6PC2; <a href="/entry/608058">608058</a>), <a href="#8" class="mim-tip-reference" title="Martin, C. C., Oeser, J. K., Svitek, C. A., Hunter, S. I., Hutton, J. C., O'Brien, R. M. <strong>Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.</strong> J. Molec. Endocr. 29: 205-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12370122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12370122</a>] [<a href="https://doi.org/10.1677/jme.0.0290205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12370122">Martin et al. (2002)</a> identified G6PC3, which they called UGRP. The predicted 346-amino acid protein has a calculated molecular mass of 38.7 kD and shares 36% and 37% identity with G6PC1 (<a href="/entry/232200">232200</a>) and IGRP, respectively. G6PC3 has 9 transmembrane domains and conserved G6Pase catalytic residues, but unlike G6PC1 and IGRP, it lacks N-linked glycosylation sites and the C-terminal KKxx motif characteristic of ER-resident transmembrane proteins. RNA blot analysis revealed ubiquitous expression of a 1.5-kb G6PC3 transcript. Expression was highest in skeletal muscle, intermediate in heart, brain, placenta, kidney, colon, thymus, spleen, and pancreas, and low in liver, lung, small intestine, and peripheral blood leukocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370122" 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>By database analysis and RT-PCR of brain mRNA, <a href="#6" class="mim-tip-reference" title="Guionie, O., Clottes, E., Stafford, K., Burchell, A. <strong>Identification and characterisation of a new human glucose-6-phosphatase isoform.</strong> FEBS Lett. 551: 159-164, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12965222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12965222</a>] [<a href="https://doi.org/10.1016/s0014-5793(03)00903-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12965222">Guionie et al. (2003)</a> cloned human G6PC3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12965222" 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="#4" class="mim-tip-reference" title="Cheung, Y. Y., Kim, S. Y., Yiu, W. H., Pan, C.-J., Jun, H.-S., Ruef, R. A., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y. <strong>Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.</strong> J. Clin. Invest. 117: 784-793, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318259</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318259[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/10.1172/JCI30443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318259">Cheung et al. (2007)</a> found that G6PC3 was expressed in human blood neutrophils. RT-PCR showed that mouse leukocytes, neutrophils, and bone marrow expressed G6pc3 at similar levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318259" 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="#8" class="mim-tip-reference" title="Martin, C. C., Oeser, J. K., Svitek, C. A., Hunter, S. I., Hutton, J. C., O'Brien, R. M. <strong>Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.</strong> J. Molec. Endocr. 29: 205-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12370122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12370122</a>] [<a href="https://doi.org/10.1677/jme.0.0290205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12370122">Martin et al. (2002)</a> determined that the G6PC3 gene contains 6 exons and spans 5.4 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370122" 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>By genomic sequence analysis, <a href="#8" class="mim-tip-reference" title="Martin, C. C., Oeser, J. K., Svitek, C. A., Hunter, S. I., Hutton, J. C., O'Brien, R. M. <strong>Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.</strong> J. Molec. Endocr. 29: 205-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12370122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12370122</a>] [<a href="https://doi.org/10.1677/jme.0.0290205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12370122">Martin et al. (2002)</a> mapped the G6PC3 gene to chromosome 17q21, where the G6PC1 gene is located. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370122" 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="#8" class="mim-tip-reference" title="Martin, C. C., Oeser, J. K., Svitek, C. A., Hunter, S. I., Hutton, J. C., O'Brien, R. M. <strong>Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.</strong> J. Molec. Endocr. 29: 205-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12370122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12370122</a>] [<a href="https://doi.org/10.1677/jme.0.0290205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12370122">Martin et al. (2002)</a> found that transient transfection of COS-7 cells with human G6PC3 did not produce a significant change in G6P hydrolysis. Luciferase analysis showed that the G6PC3 promoter, unlike that of G6PC1, was highly active in all cell lines tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370122" 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>By stably expressing human G6PC3 in Chinese hamster ovary cells, <a href="#6" class="mim-tip-reference" title="Guionie, O., Clottes, E., Stafford, K., Burchell, A. <strong>Identification and characterisation of a new human glucose-6-phosphatase isoform.</strong> FEBS Lett. 551: 159-164, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12965222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12965222</a>] [<a href="https://doi.org/10.1016/s0014-5793(03)00903-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12965222">Guionie et al. (2003)</a> showed that G6PC3 had G6P hydrolysis activity. G6P hydrolysis by G6PC3 had a lower optimal pH and a higher Km relative to G6PC1, and G6PC3 preferentially hydrolyzed other substrates compared with G6PC1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12965222" 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="#10" 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://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 (<a href="/entry/602671">602671</a>) and G6PC3 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="#10" 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://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>In affected members of a large consanguineous Turkish family and an unrelated Turkish child with autosomal recessive severe congenital neutropenia (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous mutation in the G6PC3 gene (<a href="#0001">611045.0001</a>). In vitro functional expression assays showed that patient neutrophils carrying the mutation had increased susceptibility to apoptosis, although the oxidative burst was normal. Eight additional mutations (see, e.g., <a href="#0002">611045.0002</a>-<a href="#0005">611045.0005</a>, <a href="#0007">611045.0007</a>) were identified in 7 other patients with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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 1 of the Turkish children with Dursun syndrome (see <a href="/entry/612541">612541</a>), <a href="#2" class="mim-tip-reference" title="Banka, S., Newman, W. G., Ozgul, R. K., Dursun, A. <strong>Mutations in the G6PC3 gene cause Dursun syndrome.</strong> Am. J. Med. Genet. 152A: 2609-2611, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799326</a>] [<a href="https://doi.org/10.1002/ajmg.a.33615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799326">Banka et al. (2010)</a> identified a homozygous mutation in the G6PC3 gene (<a href="#0006">611045.0006</a>). Each unaffected parent was heterozygous for the mutation, which was not found in 176 control chromosomes. The findings suggested that Dursun syndrome can be considered a subset of SCN4, with pulmonary hypertension as an important additional clinical feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20799326" 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="#7" class="mim-tip-reference" title="Lin, S. R., Pan, C.-J., Mansfield, B. C., Chou, J. Y. <strong>Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency.</strong> Molec. Genet. Metab. 114: 41-45, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25492228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25492228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25492228[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.ymgme.2014.11.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25492228">Lin et al. (2015)</a> reported that, at the time of their report, 33 separate G6PC3 mutations had been identified in G6PC3-deficient patients, but only the R253H (<a href="#0001">611045.0001</a>) and G260R (<a href="#0007">611045.0007</a>) missense mutations had been functionally characterized for pathogenicity. To demonstrate pathogenicity, <a href="#7" class="mim-tip-reference" title="Lin, S. R., Pan, C.-J., Mansfield, B. C., Chou, J. Y. <strong>Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency.</strong> Molec. Genet. Metab. 114: 41-45, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25492228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25492228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25492228[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.ymgme.2014.11.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25492228">Lin et al. (2015)</a> functionally characterized 16 of the 19 known missense mutations using a sensitive assay based on a recombinant adenoviral vector-mediated expression system. Fourteen missense mutations completely abolished G6PC3 enzymatic activity, while 2 mutations retained 49% and 45%, respectively, of wildtype activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25492228" 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="#11" class="mim-tip-reference" title="Wang, Y., Oeser, J. K., Yang, C., Sarkar, S., Hackl, S. I., Hasty, A. H., McGuinness, O. P., Paradee, W., Hutton, J. C., Powell, D. R., O'Brien, R. M. <strong>Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.</strong> J. Biol. Chem. 281: 39982-39989, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17023421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17023421</a>] [<a href="https://doi.org/10.1074/jbc.M605858200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17023421">Wang et al. (2006)</a> found that glucose-6-phosphatase hydrolytic activity was decreased by about 50% in brain homogenates from Ugrp-null mice compared to wildtype. Female, but not male, Ugrp-null mice had slightly decreased growth retardation. In contrast to G6pc1-null mice, Ugrp-null mice showed no change in hepatic glycogen content, blood glucose, or triglyceride levels compared to wildtype; however, female Ugrp-null mice showed increased plasma glucagon and reduced plasma cholesterol, suggesting that the hyperglucagonemia prevents hypoglycemia and that the decreased cholesterol was secondary to increased glucagon. <a href="#11" class="mim-tip-reference" title="Wang, Y., Oeser, J. K., Yang, C., Sarkar, S., Hackl, S. I., Hasty, A. H., McGuinness, O. P., Paradee, W., Hutton, J. C., Powell, D. R., O'Brien, R. M. <strong>Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.</strong> J. Biol. Chem. 281: 39982-39989, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17023421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17023421</a>] [<a href="https://doi.org/10.1074/jbc.M605858200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17023421">Wang et al. (2006)</a> concluded that the phenotype of Ugrp-null mice is mild, indicating that G6PC1 is the major glucose-6-phosphatase of physiologic importance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17023421" 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="Cheung, Y. Y., Kim, S. Y., Yiu, W. H., Pan, C.-J., Jun, H.-S., Ruef, R. A., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y. <strong>Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.</strong> J. Clin. Invest. 117: 784-793, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318259</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318259[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/10.1172/JCI30443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318259">Cheung et al. (2007)</a> generated mice lacking G6pc3 and found that they were indistinguishable from wildtype mice and showed no disruption in glucose homeostasis. However, G6pc3 -/- mice were neutropenic and had defective neutrophil respiratory burst, chemotaxis, and calcium flux, as well as increased susceptibility to bacterial infection. G6pc3 -/- mice showed no impairment of hemopoiesis or granulocyte differentiation. Experimental peritonitis in G6pc3 -/- mice led to increased expression of glucose-regulated proteins upregulated during ER stress. G6pc3 -/- neutrophils also exhibited an enhanced rate of apoptosis. <a href="#4" class="mim-tip-reference" title="Cheung, Y. Y., Kim, S. Y., Yiu, W. H., Pan, C.-J., Jun, H.-S., Ruef, R. A., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y. <strong>Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.</strong> J. Clin. Invest. 117: 784-793, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318259</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318259[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/10.1172/JCI30443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318259">Cheung et al. (2007)</a> concluded that inactivation of G6pc3 leads to neutrophil dysfunction that is most visible under conditions of immune stress, and that G6pc3 deficiency mimics the myeloid dysfunction of G6pt (G6PT1; <a href="/entry/602671">602671</a>) -/- mice with glycogen storage disease Ib (<a href="/entry/232220">232220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318259" 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="#9" class="mim-tip-reference" title="McDermott, D. H., De Ravin, S. S., Jun, H. S., Liu, Q., Long Priel, D. A., Noel, P., Takemoto, C. M., Ojode, T., Paul, S. M., Dunsmore, K. P., Hilligoss, D., Marquesen, M., Ulrick, J., Kuhns, D. B., Chou, J. Y., Malech, H. L., Murphy, P. M. <strong>Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.</strong> Blood 116: 2793-2802, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20616219[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/10.1182/blood-2010-01-265942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20616219">McDermott et al. (2010)</a> found that G6pc3-null mice had increased levels of mature neutrophils in the bone marrow despite reduced peripheral numbers of neutrophils, consistent with myelokathexis. Neutrophils from G6pc3-null mice had increased expression of Cxcr4 (<a href="/entry/162643">162643</a>), and treatment with a CXCR4 antagonist resulted in increased mobilization of neutrophils from the bone marrow. These findings suggested that high neutrophil expression of CXCR4 may contribute to neutropenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20616219" 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> rs118203968 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203968;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/rs118203968?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=rs118203968" 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=rs118203968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a large consanguineous kindred from Turkey with severe congenital neutropenia (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous 758G-A transition in exon 6 of the G6PC3 gene, resulting in an arg253-to-his (R253H) substitution in a highly conserved residue. The mutation was not identified in 192 controls. The patients had neonatal sepsis, intermittent thrombocytopenia, cardiac defects, and prominent superficial venous pattern. Bone marrow smears showed decreased mature neutrophils. Both peripheral neutrophils and skin fibroblasts from the patients showed an increased susceptibility to apoptosis, but the neutrophils showed normal oxidative burst. In vitro functional expression studies showed that the mutant R253H protein had no phosphatase activity. Electron microscopic studies showed an enlarged rough endoplasmic reticulum, consistent with increased stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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 large consanguineous kindred of Arab-Muslim descent in which 4 individuals had SCN4, <a href="#1" class="mim-tip-reference" title="Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J., Yeganeh, S., Yacobovich, J., Donnai, D., Shalev, S. <strong>Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.</strong> Europ. J. Hum. Genet. 19: 18-22, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20717171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20717171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20717171[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/10.1038/ejhg.2010.136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20717171">Banka et al. (2011)</a> identified a homozygous R253H mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20717171" 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>In a Turkish girl with severe congenital neutropenia (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous 554T-C transition in the G6PC3 gene, resulting in a leu185-to-pro (L185P) substitution. She had pneumonia, sepsis, atrial septal defect, pulmonary valve stenosis, and prominent superficial venous pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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>In a Greek girl with severe congenital neutropenia (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous 141C-G transversion in the G6PC3 gene, resulting in a tyr47-to-ter (Y47X) substitution. She had perianal abscesses, recurrent urinary tract infections, inner-ear hearing loss, and prominent superficial venous pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</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">rs118203971 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203971;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=rs118203971" 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=rs118203971" 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=RCV000001095" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001095" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001095</a>
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<p>In a German girl with severe congenital neutropenia (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous 778G-C transversion in the G6PC3 gene, resulting in a gly262-to-arg (G262R) substitution. She had omphalitis, recurrent urinary tract infections, an atrial septal defect, urachal fistula, microcephaly, prominent superficial venous pattern, and intermittent thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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>.0005 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
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G6PC3, 1-BP DUP, 935T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044567 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044567;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=rs797044567" 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=rs797044567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Iranian boy with severe congenital neutropenia (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous 1-bp duplication (935dupT) in the G6PC3 gene, resulting in a frameshift and premature protein truncation. He had neonatal sepsis, an atrial septal defect, and patent ductus arteriosus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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">rs267606834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606834;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=rs267606834" 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=rs267606834" 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=RCV001815156" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001815156" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001815156</a>
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<p>In a Turkish child, born of nonconsanguineous parents, with pulmonary arterial hypertension, leukopenia, and atrial septal defect (see <a href="/entry/612541">612541</a>), originally described by <a href="#5" class="mim-tip-reference" title="Dursun, A., Ozgul, R. K., Soydas, A., Tugrul, T., Gurgey, A., Celiker, A., Barst, R. J., Knowles, J. A., Mahesh, M., Morse, J. H. <strong>Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.</strong> Clin. Dysmorph. 18: 19-23, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19011569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19011569</a>] [<a href="https://doi.org/10.1097/MCD.0b013e32831841f7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19011569">Dursun et al. (2009)</a>, <a href="#2" class="mim-tip-reference" title="Banka, S., Newman, W. G., Ozgul, R. K., Dursun, A. <strong>Mutations in the G6PC3 gene cause Dursun syndrome.</strong> Am. J. Med. Genet. 152A: 2609-2611, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799326</a>] [<a href="https://doi.org/10.1002/ajmg.a.33615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799326">Banka et al. (2010)</a> identified a homozygous 346A-G transition in exon 3 of the G6PC3 gene, resulting in a met116-to-val (M116V) substitution in a highly conserved residue. Each unaffected parent was heterozygous for the mutation, which was not found in 176 control chromosomes. The child had a similarly affected sib, and both sibs died at age 18 months of severe respiratory distress due to primary pulmonary hypertension (PPH). <a href="#2" class="mim-tip-reference" title="Banka, S., Newman, W. G., Ozgul, R. K., Dursun, A. <strong>Mutations in the G6PC3 gene cause Dursun syndrome.</strong> Am. J. Med. Genet. 152A: 2609-2611, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799326</a>] [<a href="https://doi.org/10.1002/ajmg.a.33615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799326">Banka et al. (2010)</a> noted that dysfunction of G6PC3 can result in defects in glucose metabolism, which may be associated with PPH. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19011569+20799326" 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>.0007 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</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"><span class="text-primary">●</span> rs200478425 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200478425;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/rs200478425?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=rs200478425" 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=rs200478425" 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=RCV000023859 OR RCV000986189" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023859, RCV000986189" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023859...</a>
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<p>In a German boy with severe congenital neutropenia-4 (SCN4; <a href="/entry/612541">612541</a>), <a href="#3" class="mim-tip-reference" title="Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others. <strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong> New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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/10.1056/NEJMoa0805051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118303">Boztug et al. (2009)</a> identified a homozygous 778G-C transversion in the G6PC3 gene, resulting in a gly260-to-arg (G260R) substitution. Other features included growth retardation, type 2 atrial septal defect, cryptorchidism with genital dysplasia, microcephaly, inner-ear hearing loss, prominent superficial venous pattern, and intermittent thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118303" 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="#9" class="mim-tip-reference" title="McDermott, D. H., De Ravin, S. S., Jun, H. S., Liu, Q., Long Priel, D. A., Noel, P., Takemoto, C. M., Ojode, T., Paul, S. M., Dunsmore, K. P., Hilligoss, D., Marquesen, M., Ulrick, J., Kuhns, D. B., Chou, J. Y., Malech, H. L., Murphy, P. M. <strong>Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.</strong> Blood 116: 2793-2802, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20616219[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/10.1182/blood-2010-01-265942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20616219">McDermott et al. (2010)</a> identified homozygosity for the G260R substitution in 2 sibs with SCN4 and multiple clinical abnormalities. The patients had a favorable response to G-CSF treatment, which resulted in increased peripheral neutrophil counts. The G260R mutation occurred in a conserved residue in the seventh transmembrane domain and caused a complete loss of enzyme activity. Bone marrow biopsies of both patients showed the presence of mature neutrophils despite markedly decreased neutrophils in the peripheral blood. The bone marrow also showed a predominance of atypical mononuclear megakaryocytes, myeloid hyperplasia, and vacuolization of the myeloid precursors. These features were consistent with myelokathexis and cytokine activation. Peripheral blood neutrophils and NK cells had increased expression of CXCR4 (<a href="/entry/162643">162643</a>), and G-CSF treatment resulted in a dose-dependent decrease of CXCR4. <a href="#9" class="mim-tip-reference" title="McDermott, D. H., De Ravin, S. S., Jun, H. S., Liu, Q., Long Priel, D. A., Noel, P., Takemoto, C. M., Ojode, T., Paul, S. M., Dunsmore, K. P., Hilligoss, D., Marquesen, M., Ulrick, J., Kuhns, D. B., Chou, J. Y., Malech, H. L., Murphy, P. M. <strong>Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.</strong> Blood 116: 2793-2802, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20616219[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/10.1182/blood-2010-01-265942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20616219">McDermott et al. (2010)</a> concluded that the neutropenia in their patients resulted from a combination of decreased release of mature neutrophils from the bone marrow, increased apoptosis of peripheral blood neutrophils, and decreased superoxide production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20616219" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20799326" 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/ajmg.a.33615" target="_blank">Full Text</a>]
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Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others.
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<strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong>
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New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118303</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118303[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=19118303" 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/10.1056/NEJMoa0805051" target="_blank">Full Text</a>]
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Cheung, Y. Y., Kim, S. Y., Yiu, W. H., Pan, C.-J., Jun, H.-S., Ruef, R. A., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y.
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[<a href="https://doi.org/10.1172/JCI30443" target="_blank">Full Text</a>]
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Dursun, A., Ozgul, R. K., Soydas, A., Tugrul, T., Gurgey, A., Celiker, A., Barst, R. J., Knowles, J. A., Mahesh, M., Morse, J. H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19011569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19011569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19011569" 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/10.1097/MCD.0b013e32831841f7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0014-5793(03)00903-7" target="_blank">Full Text</a>]
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Lin, S. R., Pan, C.-J., Mansfield, B. C., Chou, J. Y.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25492228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25492228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25492228[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=25492228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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McDermott, D. H., De Ravin, S. S., Jun, H. S., Liu, Q., Long Priel, D. A., Noel, P., Takemoto, C. M., Ojode, T., Paul, S. M., Dunsmore, K. P., Hilligoss, D., Marquesen, M., Ulrick, J., Kuhns, D. B., Chou, J. Y., Malech, H. L., Murphy, P. M.
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<strong>Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.</strong>
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Blood 116: 2793-2802, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20616219[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=20616219" 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/10.1182/blood-2010-01-265942" target="_blank">Full Text</a>]
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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.
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<strong>Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.</strong>
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Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1816143116" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Wang2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, Y., Oeser, J. K., Yang, C., Sarkar, S., Hackl, S. I., Hasty, A. H., McGuinness, O. P., Paradee, W., Hutton, J. C., Powell, D. R., O'Brien, R. M.
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<strong>Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.</strong>
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J. Biol. Chem. 281: 39982-39989, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17023421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17023421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17023421" 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.M605858200" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Ada Hamosh - updated : 11/04/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/26/2015<br>Cassandra L. Kniffin - updated : 1/10/2012<br>Cassandra L. Kniffin - updated : 5/25/2011<br>Cassandra L. Kniffin - updated : 11/18/2010<br>Cassandra L. Kniffin - updated : 1/21/2009<br>Cassandra L. Kniffin - updated : 9/17/2007
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<a id="creationDate" class="mim-anchor"></a>
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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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<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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Paul J. Converse : 5/18/2007
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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 : 11/04/2020
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 02/26/2015<br>carol : 1/13/2012<br>ckniffin : 1/10/2012<br>wwang : 6/7/2011<br>wwang : 6/7/2011<br>wwang : 6/3/2011<br>ckniffin : 5/25/2011<br>wwang : 5/10/2011<br>ckniffin : 5/2/2011<br>carol : 11/18/2010<br>ckniffin : 11/18/2010<br>wwang : 1/26/2009<br>ckniffin : 1/21/2009<br>wwang : 9/24/2007<br>ckniffin : 9/17/2007<br>mgross : 5/18/2007
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<span class="mim-font">
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<strong>*</strong> 611045
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<h3>
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<span class="mim-font">
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GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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UBIQUITOUS GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; UGRP<br />
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GLUCOSE-6-PHOSPHATASE, BETA<br />
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G6Pase-BETA
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<strong><em>HGNC Approved Gene Symbol: G6PC3</em></strong>
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<strong>SNOMEDCT:</strong> 783058007;
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Cytogenetic location: 17q21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:44,070,673-44,076,344 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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17q21.31
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<span class="mim-font">
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Dursun syndrome
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612541
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Autosomal recessive
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3
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Neutropenia, severe congenital 4, autosomal recessive
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<span class="mim-font">
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612541
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Glucose-6-phosphatase (G6Pase) is located in the endoplasmic reticulum (ER) and catalyzes hydrolysis of G6P to glucose and phosphate, the last step of the gluconeogenic and glycogenolytic pathways. G6PC3 is a ubiquitously expressed G6Pase catalytic subunit (Martin et al., 2002; Guionie et al., 2003). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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<span class="mim-text-font">
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<p>By searching databases for homologs of IGRP (G6PC2; 608058), Martin et al. (2002) identified G6PC3, which they called UGRP. The predicted 346-amino acid protein has a calculated molecular mass of 38.7 kD and shares 36% and 37% identity with G6PC1 (232200) and IGRP, respectively. G6PC3 has 9 transmembrane domains and conserved G6Pase catalytic residues, but unlike G6PC1 and IGRP, it lacks N-linked glycosylation sites and the C-terminal KKxx motif characteristic of ER-resident transmembrane proteins. RNA blot analysis revealed ubiquitous expression of a 1.5-kb G6PC3 transcript. Expression was highest in skeletal muscle, intermediate in heart, brain, placenta, kidney, colon, thymus, spleen, and pancreas, and low in liver, lung, small intestine, and peripheral blood leukocytes. </p><p>By database analysis and RT-PCR of brain mRNA, Guionie et al. (2003) cloned human G6PC3. </p><p>Using Northern blot analysis, Cheung et al. (2007) found that G6PC3 was expressed in human blood neutrophils. RT-PCR showed that mouse leukocytes, neutrophils, and bone marrow expressed G6pc3 at similar levels. </p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</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>Martin et al. (2002) determined that the G6PC3 gene contains 6 exons and spans 5.4 kb. </p>
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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>Mapping</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>By genomic sequence analysis, Martin et al. (2002) mapped the G6PC3 gene to chromosome 17q21, where the G6PC1 gene is located. </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">
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<strong>Gene Function</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>Martin et al. (2002) found that transient transfection of COS-7 cells with human G6PC3 did not produce a significant change in G6P hydrolysis. Luciferase analysis showed that the G6PC3 promoter, unlike that of G6PC1, was highly active in all cell lines tested. </p><p>By stably expressing human G6PC3 in Chinese hamster ovary cells, Guionie et al. (2003) showed that G6PC3 had G6P hydrolysis activity. G6P hydrolysis by G6PC3 had a lower optimal pH and a higher Km relative to G6PC1, and G6PC3 preferentially hydrolyzed other substrates compared with G6PC1. </p><p>Using a combination of enzymologic, cell-culture, and in vivo approaches, Veiga-da-Cunha et al. (2019) demonstrated that G6PT (602671) and G6PC3 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 />
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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>Molecular Genetics</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>In affected members of a large consanguineous Turkish family and an unrelated Turkish child with autosomal recessive severe congenital neutropenia (SCN4; 612541), Boztug et al. (2009) identified a homozygous mutation in the G6PC3 gene (611045.0001). In vitro functional expression assays showed that patient neutrophils carrying the mutation had increased susceptibility to apoptosis, although the oxidative burst was normal. Eight additional mutations (see, e.g., 611045.0002-611045.0005, 611045.0007) were identified in 7 other patients with the disorder. </p><p>In 1 of the Turkish children with Dursun syndrome (see 612541), Banka et al. (2010) identified a homozygous mutation in the G6PC3 gene (611045.0006). Each unaffected parent was heterozygous for the mutation, which was not found in 176 control chromosomes. The findings suggested that Dursun syndrome can be considered a subset of SCN4, with pulmonary hypertension as an important additional clinical feature. </p><p>Lin et al. (2015) reported that, at the time of their report, 33 separate G6PC3 mutations had been identified in G6PC3-deficient patients, but only the R253H (611045.0001) and G260R (611045.0007) missense mutations had been functionally characterized for pathogenicity. To demonstrate pathogenicity, Lin et al. (2015) functionally characterized 16 of the 19 known missense mutations using a sensitive assay based on a recombinant adenoviral vector-mediated expression system. Fourteen missense mutations completely abolished G6PC3 enzymatic activity, while 2 mutations retained 49% and 45%, respectively, of wildtype activity. </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">
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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>Wang et al. (2006) found that glucose-6-phosphatase hydrolytic activity was decreased by about 50% in brain homogenates from Ugrp-null mice compared to wildtype. Female, but not male, Ugrp-null mice had slightly decreased growth retardation. In contrast to G6pc1-null mice, Ugrp-null mice showed no change in hepatic glycogen content, blood glucose, or triglyceride levels compared to wildtype; however, female Ugrp-null mice showed increased plasma glucagon and reduced plasma cholesterol, suggesting that the hyperglucagonemia prevents hypoglycemia and that the decreased cholesterol was secondary to increased glucagon. Wang et al. (2006) concluded that the phenotype of Ugrp-null mice is mild, indicating that G6PC1 is the major glucose-6-phosphatase of physiologic importance. </p><p>Cheung et al. (2007) generated mice lacking G6pc3 and found that they were indistinguishable from wildtype mice and showed no disruption in glucose homeostasis. However, G6pc3 -/- mice were neutropenic and had defective neutrophil respiratory burst, chemotaxis, and calcium flux, as well as increased susceptibility to bacterial infection. G6pc3 -/- mice showed no impairment of hemopoiesis or granulocyte differentiation. Experimental peritonitis in G6pc3 -/- mice led to increased expression of glucose-regulated proteins upregulated during ER stress. G6pc3 -/- neutrophils also exhibited an enhanced rate of apoptosis. Cheung et al. (2007) concluded that inactivation of G6pc3 leads to neutrophil dysfunction that is most visible under conditions of immune stress, and that G6pc3 deficiency mimics the myeloid dysfunction of G6pt (G6PT1; 602671) -/- mice with glycogen storage disease Ib (232220). </p><p>McDermott et al. (2010) found that G6pc3-null mice had increased levels of mature neutrophils in the bone marrow despite reduced peripheral numbers of neutrophils, consistent with myelokathexis. Neutrophils from G6pc3-null mice had increased expression of Cxcr4 (162643), and treatment with a CXCR4 antagonist resulted in increased mobilization of neutrophils from the bone marrow. These findings suggested that high neutrophil expression of CXCR4 may contribute to neutropenia. </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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<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>7 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">
|
|
<strong>.0001 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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G6PC3, ARG253HIS
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<br />
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SNP: rs118203968,
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|
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gnomAD: rs118203968,
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|
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ClinVar: RCV000001092, RCV003311633
|
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|
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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 affected members of a large consanguineous kindred from Turkey with severe congenital neutropenia (SCN4; 612541), Boztug et al. (2009) identified a homozygous 758G-A transition in exon 6 of the G6PC3 gene, resulting in an arg253-to-his (R253H) substitution in a highly conserved residue. The mutation was not identified in 192 controls. The patients had neonatal sepsis, intermittent thrombocytopenia, cardiac defects, and prominent superficial venous pattern. Bone marrow smears showed decreased mature neutrophils. Both peripheral neutrophils and skin fibroblasts from the patients showed an increased susceptibility to apoptosis, but the neutrophils showed normal oxidative burst. In vitro functional expression studies showed that the mutant R253H protein had no phosphatase activity. Electron microscopic studies showed an enlarged rough endoplasmic reticulum, consistent with increased stress. </p><p>In a large consanguineous kindred of Arab-Muslim descent in which 4 individuals had SCN4, Banka et al. (2011) identified a homozygous R253H 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>
|
|
<span class="mim-font">
|
|
<strong>.0002 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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G6PC3, LEU185PRO
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<br />
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SNP: rs118203969,
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ClinVar: RCV000001093
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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 Turkish girl with severe congenital neutropenia (SCN4; 612541), Boztug et al. (2009) identified a homozygous 554T-C transition in the G6PC3 gene, resulting in a leu185-to-pro (L185P) substitution. She had pneumonia, sepsis, atrial septal defect, pulmonary valve stenosis, and prominent superficial venous pattern. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
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|
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|
G6PC3, TYR47TER
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<br />
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|
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SNP: rs118203970,
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|
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|
|
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gnomAD: rs118203970,
|
|
|
|
|
|
ClinVar: RCV000001094
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Greek girl with severe congenital neutropenia (SCN4; 612541), Boztug et al. (2009) identified a homozygous 141C-G transversion in the G6PC3 gene, resulting in a tyr47-to-ter (Y47X) substitution. She had perianal abscesses, recurrent urinary tract infections, inner-ear hearing loss, and prominent superficial venous pattern. </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>.0004 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
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G6PC3, GLY262ARG
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<br />
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|
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SNP: rs118203971,
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|
|
|
|
|
ClinVar: RCV000001095
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German girl with severe congenital neutropenia (SCN4; 612541), Boztug et al. (2009) identified a homozygous 778G-C transversion in the G6PC3 gene, resulting in a gly262-to-arg (G262R) substitution. She had omphalitis, recurrent urinary tract infections, an atrial septal defect, urachal fistula, microcephaly, prominent superficial venous pattern, and intermittent thrombocytopenia. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC3, 1-BP DUP, 935T
|
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|
|
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<br />
|
|
|
|
SNP: rs797044567,
|
|
|
|
|
|
|
|
ClinVar: RCV000192090
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Iranian boy with severe congenital neutropenia (SCN4; 612541), Boztug et al. (2009) identified a homozygous 1-bp duplication (935dupT) in the G6PC3 gene, resulting in a frameshift and premature protein truncation. He had neonatal sepsis, an atrial septal defect, and patent ductus arteriosus. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DURSUN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC3, MET116VAL
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|
|
<br />
|
|
|
|
SNP: rs267606834,
|
|
|
|
|
|
|
|
ClinVar: RCV001815156
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish child, born of nonconsanguineous parents, with pulmonary arterial hypertension, leukopenia, and atrial septal defect (see 612541), originally described by Dursun et al. (2009), Banka et al. (2010) identified a homozygous 346A-G transition in exon 3 of the G6PC3 gene, resulting in a met116-to-val (M116V) substitution in a highly conserved residue. Each unaffected parent was heterozygous for the mutation, which was not found in 176 control chromosomes. The child had a similarly affected sib, and both sibs died at age 18 months of severe respiratory distress due to primary pulmonary hypertension (PPH). Banka et al. (2010) noted that dysfunction of G6PC3 can result in defects in glucose metabolism, which may be associated with PPH. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC3, GLY260ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200478425,
|
|
|
|
|
|
gnomAD: rs200478425,
|
|
|
|
|
|
ClinVar: RCV000023859, RCV000986189
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German boy with severe congenital neutropenia-4 (SCN4; 612541), Boztug et al. (2009) identified a homozygous 778G-C transversion in the G6PC3 gene, resulting in a gly260-to-arg (G260R) substitution. Other features included growth retardation, type 2 atrial septal defect, cryptorchidism with genital dysplasia, microcephaly, inner-ear hearing loss, prominent superficial venous pattern, and intermittent thrombocytopenia. </p><p>McDermott et al. (2010) identified homozygosity for the G260R substitution in 2 sibs with SCN4 and multiple clinical abnormalities. The patients had a favorable response to G-CSF treatment, which resulted in increased peripheral neutrophil counts. The G260R mutation occurred in a conserved residue in the seventh transmembrane domain and caused a complete loss of enzyme activity. Bone marrow biopsies of both patients showed the presence of mature neutrophils despite markedly decreased neutrophils in the peripheral blood. The bone marrow also showed a predominance of atypical mononuclear megakaryocytes, myeloid hyperplasia, and vacuolization of the myeloid precursors. These features were consistent with myelokathexis and cytokine activation. Peripheral blood neutrophils and NK cells had increased expression of CXCR4 (162643), and G-CSF treatment resulted in a dose-dependent decrease of CXCR4. McDermott et al. (2010) concluded that the neutropenia in their patients resulted from a combination of decreased release of mature neutrophils from the bone marrow, increased apoptosis of peripheral blood neutrophils, and decreased superoxide production. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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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">
|
|
Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J., Yeganeh, S., Yacobovich, J., Donnai, D., Shalev, S.
|
|
<strong>Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.</strong>
|
|
Europ. J. Hum. Genet. 19: 18-22, 2011.
|
|
|
|
|
|
[PubMed: 20717171]
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|
|
[Full Text: https://doi.org/10.1038/ejhg.2010.136]
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Banka, S., Newman, W. G., Ozgul, R. K., Dursun, A.
|
|
<strong>Mutations in the G6PC3 gene cause Dursun syndrome.</strong>
|
|
Am. J. Med. Genet. 152A: 2609-2611, 2010.
|
|
|
|
|
|
[PubMed: 20799326]
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|
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[Full Text: https://doi.org/10.1002/ajmg.a.33615]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.-K., Minkov, M., and 14 others.
|
|
<strong>A syndrome with congenital neutropenia and mutations in G6PC3.</strong>
|
|
New Eng. J. Med. 360: 32-43, 2009. Note: Erratum: New Eng. J. Med. 364: 1682 only, 2011.
|
|
|
|
|
|
[PubMed: 19118303]
|
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|
|
[Full Text: https://doi.org/10.1056/NEJMoa0805051]
|
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|
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Cheung, Y. Y., Kim, S. Y., Yiu, W. H., Pan, C.-J., Jun, H.-S., Ruef, R. A., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y.
|
|
<strong>Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.</strong>
|
|
J. Clin. Invest. 117: 784-793, 2007.
|
|
|
|
|
|
[PubMed: 17318259]
|
|
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|
|
|
[Full Text: https://doi.org/10.1172/JCI30443]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dursun, A., Ozgul, R. K., Soydas, A., Tugrul, T., Gurgey, A., Celiker, A., Barst, R. J., Knowles, J. A., Mahesh, M., Morse, J. H.
|
|
<strong>Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.</strong>
|
|
Clin. Dysmorph. 18: 19-23, 2009.
|
|
|
|
|
|
[PubMed: 19011569]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MCD.0b013e32831841f7]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guionie, O., Clottes, E., Stafford, K., Burchell, A.
|
|
<strong>Identification and characterisation of a new human glucose-6-phosphatase isoform.</strong>
|
|
FEBS Lett. 551: 159-164, 2003.
|
|
|
|
|
|
[PubMed: 12965222]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0014-5793(03)00903-7]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lin, S. R., Pan, C.-J., Mansfield, B. C., Chou, J. Y.
|
|
<strong>Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency.</strong>
|
|
Molec. Genet. Metab. 114: 41-45, 2015.
|
|
|
|
|
|
[PubMed: 25492228]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2014.11.012]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martin, C. C., Oeser, J. K., Svitek, C. A., Hunter, S. I., Hutton, J. C., O'Brien, R. M.
|
|
<strong>Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.</strong>
|
|
J. Molec. Endocr. 29: 205-222, 2002.
|
|
|
|
|
|
[PubMed: 12370122]
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|
|
[Full Text: https://doi.org/10.1677/jme.0.0290205]
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|
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
McDermott, D. H., De Ravin, S. S., Jun, H. S., Liu, Q., Long Priel, D. A., Noel, P., Takemoto, C. M., Ojode, T., Paul, S. M., Dunsmore, K. P., Hilligoss, D., Marquesen, M., Ulrick, J., Kuhns, D. B., Chou, J. Y., Malech, H. L., Murphy, P. M.
|
|
<strong>Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.</strong>
|
|
Blood 116: 2793-2802, 2010.
|
|
|
|
|
|
[PubMed: 20616219]
|
|
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|
|
[Full Text: https://doi.org/10.1182/blood-2010-01-265942]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
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: 30626647]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.1816143116]
|
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Wang, Y., Oeser, J. K., Yang, C., Sarkar, S., Hackl, S. I., Hasty, A. H., McGuinness, O. P., Paradee, W., Hutton, J. C., Powell, D. R., O'Brien, R. M.
|
|
<strong>Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.</strong>
|
|
J. Biol. Chem. 281: 39982-39989, 2006.
|
|
|
|
|
|
[PubMed: 17023421]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M605858200]
|
|
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|
|
</p>
|
|
</li>
|
|
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|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
|
|
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|
</div>
|
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 11/04/2020<br>Ada Hamosh - updated : 02/26/2015<br>Cassandra L. Kniffin - updated : 1/10/2012<br>Cassandra L. Kniffin - updated : 5/25/2011<br>Cassandra L. Kniffin - updated : 11/18/2010<br>Cassandra L. Kniffin - updated : 1/21/2009<br>Cassandra L. Kniffin - updated : 9/17/2007
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
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Paul J. Converse : 5/18/2007
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