3354 lines
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3354 lines
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Entry
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- *607838 - N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG
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<p>
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<span class="h4">*607838</span>
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<br />
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<strong>Table of Contents</strong>
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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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<li role="presentation" style="margin-left: 1em">
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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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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/607838">Table View</a>
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<a href="#references"><strong>References</strong></a>
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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>
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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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<h4 class="panel-title">
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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 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=ENSG00000090581;t=ENST00000204679" 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=84572" 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=607838" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=ENSG00000090581;t=ENST00000204679" 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_032520" 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_032520" 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=607838" 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=06384&isoform_id=06384_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/GNPTG" 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/11037706,14249738,14336748,15779035,37782420,71152085,119606072,119606073,119606074,126031767,189065280" 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/Q9UJJ9" 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 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=84572" 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=ENSG00000090581;t=ENST00000204679" 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=GNPTG" 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=GNPTG" 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+84572" 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/GNPTG" 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:84572" 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/84572" 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=chr16&hgg_gene=ENST00000204679.9&hgg_start=1351931&hgg_end=1364113&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 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/genes/HGNC:23026" 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://medlineplus.gov/genetics/gene/gnptg" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607838[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=607838[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/ENSG00000090581" 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=GNPTG" 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=GNPTG" 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=GNPTG" 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=GNPTG&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/PA134990433" 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:23026" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2147006" 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/GNPTG#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:2147006" 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/84572/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=84572" 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-040625-18" 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:84572" 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=GNPTG&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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</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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607838
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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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N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG
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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>
|
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<span class="mim-font">
|
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GNPTAG
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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=GNPTG" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GNPTG</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>
|
|
Cytogenetic location: <a href="/geneMap/16/59?start=-3&limit=10&highlight=59">16p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:1351931-1364113&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'})">16:1,351,931-1,364,113</a> </span>
|
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</em>
|
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</strong>
|
|
<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="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/59?start=-3&limit=10&highlight=59">
|
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16p13.3
|
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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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Mucolipidosis III gamma
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/252605"> 252605 </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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|
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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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</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607838" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607838" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
|
<p>UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase; <a href="https://enzyme.expasy.org/EC/2.7.8.17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.8.17</a>) catalyzes the initial step in the synthesis of the mannose 6-phosphate (M6P) determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex, the enzyme product of 2 genes: the gamma subunit is encoded by the GNPTG gene on chromosome 16, and the alpha and beta subunits are encoded by the GNPTAB gene (<a href="/entry/607840">607840</a>) on chromosome 12.</p>
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</span>
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<div>
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<p>Bao et al. (<a href="#1" class="mim-tip-reference" title="Bao, M., Booth, J. L., Elmendorf, B. J., Canfield, W. M. <strong>Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: I. Purification and subunit structure.</strong> J. Biol. Chem. 271: 31437-31445, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940155</a>] [<a href="https://doi.org/10.1074/jbc.271.49.31437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8940155">1996</a>, <a href="#2" class="mim-tip-reference" title="Bao, M., Elmendorf, B. J., Booth, J. L., Drake, R. R., Canfield, W. M. <strong>Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: II. Enzymatic characterization and identification of the catalytic subunit.</strong> J. Biol. Chem. 271: 31446-31451, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940156</a>] [<a href="https://doi.org/10.1074/jbc.271.49.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8940156">1996</a>) determined that bovine GlcNAc-phosphotransferase is a 54-kD alpha-2/beta-2/gamma-2 hexameric complex. By EST database searching with the bovine GlcNAc-phosphotransferase gamma subunit as query, <a href="#6" class="mim-tip-reference" title="Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., Canfield, W. M. <strong>Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC).</strong> J. Clin. Invest. 105: 673-681, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712439[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/JCI5826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712439">Raas-Rothschild et al. (2000)</a> identified a partial clone of the human counterpart. They cloned a full-length GNPTAG cDNA by PCR, using a human brain cDNA library. The deduced mature GNPTAG protein has 281 amino acids and a molecular mass of 31 kD. It contains 2 N-glycosylation sites. Northern blot analysis detected a single 1.3-kb transcript in all 8 tissues examined. Additional transcripts up to 7.5 kb were found in lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8940156+10712439+8940155" 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 radiation hybrid analysis, the EST corresponding to human GNPTG had been mapped to chromosome 16. By sequence analysis, <a href="#6" class="mim-tip-reference" title="Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., Canfield, W. M. <strong>Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC).</strong> J. Clin. Invest. 105: 673-681, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712439[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/JCI5826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712439">Raas-Rothschild et al. (2000)</a> mapped the GNPTG gene to 16p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10712439" 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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By sequence analysis of the GNPTAG in patients from 3 families with mucolipidosis IIIC (<a href="/entry/252605">252605</a>), <a href="#6" class="mim-tip-reference" title="Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., Canfield, W. M. <strong>Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC).</strong> J. Clin. Invest. 105: 673-681, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712439[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/JCI5826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712439">Raas-Rothschild et al. (2000)</a> identified a frameshift mutation that segregated with the disease (<a href="#0001">607838.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10712439" 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 10 patients from 7 families with mucolipidosis IIIC, <a href="#4" class="mim-tip-reference" title="Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others. <strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong> Hum. Mutat. 30: 978-984, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>] [<a href="https://doi.org/10.1002/humu.20959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19370764">Persichetti et al. (2009)</a> identified 6 novel mutations in the GNPTG gene (see, e.g., <a href="#0002">607838.0002</a>-<a href="#0006">607838.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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 Portuguese patient with mucolipidosis IIIC, <a href="#3" class="mim-tip-reference" title="Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S. <strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III--identification of eight novel mutations.</strong> Clin. Genet. 76: 76-84, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19659762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19659762</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19659762">Encarnacao et al. (2009)</a> identified compound heterozygosity for 2 mutations in the GNPTG gene (<a href="#0007">607838.0007</a> and <a href="#0008">607838.0008</a>). Both the GNPTG and GNPTAB mRNA transcripts were significantly decreased (10- and 2.4-fold, respectively) compared to controls. The patient had a relatively mild phenotype with onset at age 10 years, no psychomotor retardation, and survival into adulthood. <a href="#3" class="mim-tip-reference" title="Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S. <strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III--identification of eight novel mutations.</strong> Clin. Genet. 76: 76-84, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19659762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19659762</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19659762">Encarnacao et al. (2009)</a> suggested that the relatively mild phenotype could probably be explained by the fact that the gamma subunit does not contribute to the catalytic function of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19659762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the GNPTG gene and persistent stuttering, see STUT2 (<a href="/entry/609261">609261</a>).</p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607838[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In 3 families segregating mucolipidosis IIIC (<a href="/entry/252605">252605</a>), the variant form of pseudo-Hurler polydystrophy, <a href="#6" class="mim-tip-reference" title="Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., Canfield, W. M. <strong>Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC).</strong> J. Clin. Invest. 105: 673-681, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712439[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/JCI5826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712439">Raas-Rothschild et al. (2000)</a> identified a frameshift mutation in the GNPTG gene: insertion of a single cytosine at codon 167, with a frameshift predicting a premature translation termination 107 bp downstream from the insertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10712439" 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 2 Italian sibs with mucolipidosis IIIC (<a href="/entry/252605">252605</a>), <a href="#4" class="mim-tip-reference" title="Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others. <strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong> Hum. Mutat. 30: 978-984, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>] [<a href="https://doi.org/10.1002/humu.20959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19370764">Persichetti et al. (2009)</a> identified a homozygous 1-bp deletion (611delG) in the GNPTG gene, predicted to result in a frameshift (Gly204AlafsTer6) and premature termination, leading to the synthesis of a truncated protein or nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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">rs193302859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193302859;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=rs193302859" 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=rs193302859" 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=RCV000002930" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002930" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002930</a>
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<p>In a Spanish boy with mucolipidosis IIIC (<a href="/entry/252605">252605</a>), <a href="#4" class="mim-tip-reference" title="Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others. <strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong> Hum. Mutat. 30: 978-984, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>] [<a href="https://doi.org/10.1002/humu.20959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19370764">Persichetti et al. (2009)</a> identified a homozygous 28-bp deletion at (640_667del28) in the GNPTG gene, predicted to result in a frameshift and premature termination (Glu214LysfsTer37), leading to a synthesis of a truncated protein or nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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 MUCOLIPIDOSIS III GAMMA</strong>
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GNPTG, TRP111TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852884;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=rs137852884" 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=rs137852884" 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=RCV000002931 OR RCV000726758" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002931, RCV000726758" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002931...</a>
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<p>In 2 Spanish sibs with mucolipidosis IIIC (<a href="/entry/252605">252605</a>), <a href="#4" class="mim-tip-reference" title="Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others. <strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong> Hum. Mutat. 30: 978-984, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>] [<a href="https://doi.org/10.1002/humu.20959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19370764">Persichetti et al. (2009)</a> identified a homozygous 333G-A transition in the GNPTG gene, resulting in a trp111-to-ter (W111X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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 MUCOLIPIDOSIS III GAMMA</strong>
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GNPTG, IVS8AS, A-G, -2
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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> rs193302855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193302855;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/rs193302855?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=rs193302855" 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=rs193302855" 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=RCV000020924 OR RCV001380067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020924, RCV001380067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020924...</a>
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<p>In 2 Italian sibs with mucolipidosis IIIC (<a href="/entry/252605">252605</a>), <a href="#4" class="mim-tip-reference" title="Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others. <strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong> Hum. Mutat. 30: 978-984, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>] [<a href="https://doi.org/10.1002/humu.20959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19370764">Persichetti et al. (2009)</a> identified compound heterozygosity for 2 mutations in the GNPTG gene: an A-to-G transition in intron 8, resulting in a splice site mutation, and 316G-A transition resulting in a gly106-to ser (G106S; <a href="#0006">607838.0006</a>) substitution in a highly conserved residue. Functional expression studies showed that the splice site mutation generated a transcript that skipped exon 9 and a longer transcript that retained introns 8 and 9, resulting in frameshift and a premature termination codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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>.0006 MUCOLIPIDOSIS III GAMMA</strong>
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GNPTG, GLY106SER
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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> rs137852885 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852885;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/rs137852885?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=rs137852885" 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=rs137852885" 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=RCV000002933 OR RCV001062193" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002933, RCV001062193" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002933...</a>
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<p>For discussion of the gly106-to-ser (G106S) mutation in the GNPTG gene that was found in compound heterozygous state in 2 sibs with mucolipidosis IIIC (<a href="/entry/252605">252605</a>) by <a href="#4" class="mim-tip-reference" title="Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others. <strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong> Hum. Mutat. 30: 978-984, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>] [<a href="https://doi.org/10.1002/humu.20959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19370764">Persichetti et al. (2009)</a>, see <a href="#0005">607838.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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 MUCOLIPIDOSIS III GAMMA</strong>
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GNPTG, 1-BP DEL, 639T
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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> rs193302858 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193302858;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/rs193302858?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=rs193302858" 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=rs193302858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020926" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020926" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020926</a>
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<p>In a Portuguese patient with mucolipidosis III gamma (<a href="/entry/252605">252605</a>), <a href="#3" class="mim-tip-reference" title="Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S. <strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III--identification of eight novel mutations.</strong> Clin. Genet. 76: 76-84, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19659762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19659762</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19659762">Encarnacao et al. (2009)</a> identified compound heterozygosity for 2 mutations in the GNPTG gene: a 1-bp deletion (639delT) resulting in a frameshift and premature termination, and a G-to-T transversion in intron 8 (610-1G-T; <a href="#0008">607838.0008</a>), resulting in abnormal splicing. Both the GNPTG and GNPTAB mRNA transcripts were significantly decreased (10- and 2.4-fold, respectively) compared to controls. The authors suggested that both GNPTG mutations were subject to nonsense-mediated mRNA decay. The patient had a relatively mild phenotype with onset at age 10 years, no psychomotor retardation, and survival into adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19659762" 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>.0008 MUCOLIPIDOSIS III GAMMA</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">rs193302854 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193302854;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=rs193302854" 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=rs193302854" 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=RCV000020923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020923</a>
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<p>For discussion of the splice site mutation in the GNPTG gene (610-1G-T) that was found in compound heterozygous state in a patient with mucolipidosis III gamma (<a href="/entry/252605">252605</a>) by <a href="#3" class="mim-tip-reference" title="Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S. <strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III--identification of eight novel mutations.</strong> Clin. Genet. 76: 76-84, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19659762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19659762</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19659762">Encarnacao et al. (2009)</a>, see <a href="#0007">607838.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19659762" 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> rs1336176104 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1336176104;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/rs1336176104?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=rs1336176104" 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=rs1336176104" 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=RCV000023662" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023662" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023662</a>
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<p>In 3 Afghan sibs with mucolipidosis III gamma (<a href="/entry/252605">252605</a>), <a href="#5" class="mim-tip-reference" title="Pohl, S., Encarnacao, M., Castrichini, M., Muller-Loennies, S., Muschol, N., Braulke, T. <strong>Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: implications for molecular and cellular diagnostics.</strong> Am. J. Med. Genet. 152A: 124-132, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034096</a>] [<a href="https://doi.org/10.1002/ajmg.a.33170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034096">Pohl et al. (2010)</a> identified a homozygous G-to-A transition in intron 7 of the GNPTG gene, resulting in a activation of a cryptic 3-prime splice site, frameshift, and premature termination. There were reduced levels of mutant mRNA and Western blot analysis showed lack of the GNPTG protein, consistent with nonsense-mediated mRNA decay. The patients presented at about 7 years of age with progressive joint pain and stiffness, especially affecting the fingers, hip, and spine. All had myopia, but hearing and intelligence were normal. The 2 sisters had short stature, but their brother had normal height. Physical examination of all 3 sibs as teenagers showed short neck, hyperlordosis of the spine, short trunks, genu valgum, flat feet, and reduced joint mobility and contractures of the shoulders, spine, and fingers. Cultured fibroblasts derived from the brother showed reduced activities (30 to 50%) of lysosomal enzymes compared to controls. Radiolabeling of the lysosomal enzyme cathepsin D showed that patient fibroblasts had decreased levels of newly synthesized protein, and that most (70%) of the newly synthesized protein was missorted into the medium and not targeted to lysosomes. There were also low levels of M6P-containing proteins in fibroblasts extracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034096" 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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Bao, M., Booth, J. L., Elmendorf, B. J., Canfield, W. M.
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<strong>Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: I. Purification and subunit structure.</strong>
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J. Biol. Chem. 271: 31437-31445, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940155" 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.271.49.31437" target="_blank">Full Text</a>]
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Bao, M., Elmendorf, B. J., Booth, J. L., Drake, R. R., Canfield, W. M.
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<strong>Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: II. Enzymatic characterization and identification of the catalytic subunit.</strong>
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J. Biol. Chem. 271: 31446-31451, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940156" 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.271.49.31446" target="_blank">Full Text</a>]
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Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S.
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<strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III--identification of eight novel mutations.</strong>
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Clin. Genet. 76: 76-84, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19659762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19659762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19659762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others.
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<strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong>
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Hum. Mutat. 30: 978-984, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19370764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19370764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19370764" 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/humu.20959" target="_blank">Full Text</a>]
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Pohl, S., Encarnacao, M., Castrichini, M., Muller-Loennies, S., Muschol, N., Braulke, T.
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<strong>Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: implications for molecular and cellular diagnostics.</strong>
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Am. J. Med. Genet. 152A: 124-132, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034096" 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.33170" target="_blank">Full Text</a>]
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Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., Canfield, W. M.
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<strong>Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC).</strong>
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J. Clin. Invest. 105: 673-681, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712439[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=10712439" 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/10.1172/JCI5826" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 1/4/2011
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Cassandra L. Kniffin - updated : 5/25/2010<br>Cassandra L. Kniffin - updated : 9/8/2009<br>Cassandra L. Kniffin - updated : 3/13/2008<br>Victor A. McKusick - updated : 2/21/2006
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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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Victor A. McKusick : 5/30/2003
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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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 : 07/31/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/17/2015<br>mcolton : 8/12/2015<br>carol : 9/3/2013<br>terry : 11/15/2012<br>wwang : 1/21/2011<br>ckniffin : 1/4/2011<br>wwang : 6/1/2010<br>ckniffin : 5/25/2010<br>wwang : 3/8/2010<br>ckniffin : 3/8/2010<br>wwang : 9/21/2009<br>ckniffin : 9/8/2009<br>wwang : 3/13/2008<br>alopez : 3/8/2006<br>terry : 2/21/2006<br>joanna : 10/10/2005<br>wwang : 10/10/2005<br>carol : 5/30/2003<br>carol : 5/30/2003<br>carol : 5/30/2003<br>carol : 5/30/2003
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607838
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG
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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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<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>
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<span class="mim-font">
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GNPTAG
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</span>
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</h4>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GNPTG</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:1,351,931-1,364,113 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16p13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Mucolipidosis III gamma
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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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252605
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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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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</h4>
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</div>
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<span class="mim-text-font">
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<p>UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase; EC 2.7.8.17) catalyzes the initial step in the synthesis of the mannose 6-phosphate (M6P) determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex, the enzyme product of 2 genes: the gamma subunit is encoded by the GNPTG gene on chromosome 16, and the alpha and beta subunits are encoded by the GNPTAB gene (607840) on chromosome 12.</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>Cloning and Expression</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>Bao et al. (1996, 1996) determined that bovine GlcNAc-phosphotransferase is a 54-kD alpha-2/beta-2/gamma-2 hexameric complex. By EST database searching with the bovine GlcNAc-phosphotransferase gamma subunit as query, Raas-Rothschild et al. (2000) identified a partial clone of the human counterpart. They cloned a full-length GNPTAG cDNA by PCR, using a human brain cDNA library. The deduced mature GNPTAG protein has 281 amino acids and a molecular mass of 31 kD. It contains 2 N-glycosylation sites. Northern blot analysis detected a single 1.3-kb transcript in all 8 tissues examined. Additional transcripts up to 7.5 kb were found in lung. </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>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 radiation hybrid analysis, the EST corresponding to human GNPTG had been mapped to chromosome 16. By sequence analysis, Raas-Rothschild et al. (2000) mapped the GNPTG gene to 16p. </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><strong><em>Mucolipidosis III Gamma</em></strong></p><p>
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By sequence analysis of the GNPTAG in patients from 3 families with mucolipidosis IIIC (252605), Raas-Rothschild et al. (2000) identified a frameshift mutation that segregated with the disease (607838.0001). </p><p>In 10 patients from 7 families with mucolipidosis IIIC, Persichetti et al. (2009) identified 6 novel mutations in the GNPTG gene (see, e.g., 607838.0002-607838.0006). </p><p>In a Portuguese patient with mucolipidosis IIIC, Encarnacao et al. (2009) identified compound heterozygosity for 2 mutations in the GNPTG gene (607838.0007 and 607838.0008). Both the GNPTG and GNPTAB mRNA transcripts were significantly decreased (10- and 2.4-fold, respectively) compared to controls. The patient had a relatively mild phenotype with onset at age 10 years, no psychomotor retardation, and survival into adulthood. Encarnacao et al. (2009) suggested that the relatively mild phenotype could probably be explained by the fact that the gamma subunit does not contribute to the catalytic function of the enzyme. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
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For discussion of a possible association between variation in the GNPTG gene and persistent stuttering, see STUT2 (609261).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</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 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GNPTG, 1-BP INS
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<br />
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|
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SNP: rs756959430,
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gnomAD: rs756959430,
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ClinVar: RCV000502548, RCV001070439
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 3 families segregating mucolipidosis IIIC (252605), the variant form of pseudo-Hurler polydystrophy, Raas-Rothschild et al. (2000) identified a frameshift mutation in the GNPTG gene: insertion of a single cytosine at codon 167, with a frameshift predicting a premature translation termination 107 bp downstream from the insertion. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GNPTG, 1-BP DEL, 611G
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|
|
<br />
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|
|
SNP: rs193302856,
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ClinVar: RCV000002929
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian sibs with mucolipidosis IIIC (252605), Persichetti et al. (2009) identified a homozygous 1-bp deletion (611delG) in the GNPTG gene, predicted to result in a frameshift (Gly204AlafsTer6) and premature termination, leading to the synthesis of a truncated protein or nonsense-mediated mRNA decay. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUCOLIPIDOSIS III GAMMA</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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GNPTG, 28-BP DEL, NT640
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<br />
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|
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SNP: rs193302859,
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ClinVar: RCV000002930
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a Spanish boy with mucolipidosis IIIC (252605), Persichetti et al. (2009) identified a homozygous 28-bp deletion at (640_667del28) in the GNPTG gene, predicted to result in a frameshift and premature termination (Glu214LysfsTer37), leading to a synthesis of a truncated protein or nonsense-mediated mRNA decay. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0004 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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GNPTG, TRP111TER
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<br />
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SNP: rs137852884,
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ClinVar: RCV000002931, RCV000726758
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In 2 Spanish sibs with mucolipidosis IIIC (252605), Persichetti et al. (2009) identified a homozygous 333G-A transition in the GNPTG gene, resulting in a trp111-to-ter (W111X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GNPTG, IVS8AS, A-G, -2
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<br />
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SNP: rs193302855,
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gnomAD: rs193302855,
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ClinVar: RCV000020924, RCV001380067
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Italian sibs with mucolipidosis IIIC (252605), Persichetti et al. (2009) identified compound heterozygosity for 2 mutations in the GNPTG gene: an A-to-G transition in intron 8, resulting in a splice site mutation, and 316G-A transition resulting in a gly106-to ser (G106S; 607838.0006) substitution in a highly conserved residue. Functional expression studies showed that the splice site mutation generated a transcript that skipped exon 9 and a longer transcript that retained introns 8 and 9, resulting in frameshift and a premature termination codon. </p>
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</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0006 MUCOLIPIDOSIS III GAMMA</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GNPTG, GLY106SER
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<br />
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SNP: rs137852885,
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gnomAD: rs137852885,
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ClinVar: RCV000002933, RCV001062193
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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>For discussion of the gly106-to-ser (G106S) mutation in the GNPTG gene that was found in compound heterozygous state in 2 sibs with mucolipidosis IIIC (252605) by Persichetti et al. (2009), see 607838.0005. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0007 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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GNPTG, 1-BP DEL, 639T
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<br />
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SNP: rs193302858,
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gnomAD: rs193302858,
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ClinVar: RCV000020926
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a Portuguese patient with mucolipidosis III gamma (252605), Encarnacao et al. (2009) identified compound heterozygosity for 2 mutations in the GNPTG gene: a 1-bp deletion (639delT) resulting in a frameshift and premature termination, and a G-to-T transversion in intron 8 (610-1G-T; 607838.0008), resulting in abnormal splicing. Both the GNPTG and GNPTAB mRNA transcripts were significantly decreased (10- and 2.4-fold, respectively) compared to controls. The authors suggested that both GNPTG mutations were subject to nonsense-mediated mRNA decay. The patient had a relatively mild phenotype with onset at age 10 years, no psychomotor retardation, and survival into adulthood. </p>
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<h4>
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<span class="mim-font">
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<strong>.0008 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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GNPTG, IVS8AS, G-T, -1
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<br />
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SNP: rs193302854,
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ClinVar: RCV000020923
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</span>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation in the GNPTG gene (610-1G-T) that was found in compound heterozygous state in a patient with mucolipidosis III gamma (252605) by Encarnacao et al. (2009), see 607838.0007. </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>.0009 MUCOLIPIDOSIS III GAMMA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GNPTG, IVS7AS, G-A, -10
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<br />
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SNP: rs1336176104,
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gnomAD: rs1336176104,
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ClinVar: RCV000023662
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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 3 Afghan sibs with mucolipidosis III gamma (252605), Pohl et al. (2010) identified a homozygous G-to-A transition in intron 7 of the GNPTG gene, resulting in a activation of a cryptic 3-prime splice site, frameshift, and premature termination. There were reduced levels of mutant mRNA and Western blot analysis showed lack of the GNPTG protein, consistent with nonsense-mediated mRNA decay. The patients presented at about 7 years of age with progressive joint pain and stiffness, especially affecting the fingers, hip, and spine. All had myopia, but hearing and intelligence were normal. The 2 sisters had short stature, but their brother had normal height. Physical examination of all 3 sibs as teenagers showed short neck, hyperlordosis of the spine, short trunks, genu valgum, flat feet, and reduced joint mobility and contractures of the shoulders, spine, and fingers. Cultured fibroblasts derived from the brother showed reduced activities (30 to 50%) of lysosomal enzymes compared to controls. Radiolabeling of the lysosomal enzyme cathepsin D showed that patient fibroblasts had decreased levels of newly synthesized protein, and that most (70%) of the newly synthesized protein was missorted into the medium and not targeted to lysosomes. There were also low levels of M6P-containing proteins in fibroblasts extracts. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Bao, M., Booth, J. L., Elmendorf, B. J., Canfield, W. M.
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<strong>Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: I. Purification and subunit structure.</strong>
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J. Biol. Chem. 271: 31437-31445, 1996.
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[PubMed: 8940155]
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[Full Text: https://doi.org/10.1074/jbc.271.49.31437]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bao, M., Elmendorf, B. J., Booth, J. L., Drake, R. R., Canfield, W. M.
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<strong>Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: II. Enzymatic characterization and identification of the catalytic subunit.</strong>
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J. Biol. Chem. 271: 31446-31451, 1996.
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[PubMed: 8940156]
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[Full Text: https://doi.org/10.1074/jbc.271.49.31446]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S.
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<strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III--identification of eight novel mutations.</strong>
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Clin. Genet. 76: 76-84, 2009.
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[PubMed: 19659762]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01185.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Persichetti, E., Chuzhanova, N. A., Dardis, A., Tappino, B., Pohl, S., Thomas, N. S. T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A. L., Sibilio, M., and 9 others.
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<strong>Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.</strong>
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Hum. Mutat. 30: 978-984, 2009.
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[PubMed: 19370764]
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[Full Text: https://doi.org/10.1002/humu.20959]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pohl, S., Encarnacao, M., Castrichini, M., Muller-Loennies, S., Muschol, N., Braulke, T.
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<strong>Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: implications for molecular and cellular diagnostics.</strong>
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Am. J. Med. Genet. 152A: 124-132, 2010.
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[PubMed: 20034096]
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[Full Text: https://doi.org/10.1002/ajmg.a.33170]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B., Munnich, A., Canfield, W. M.
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<strong>Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC).</strong>
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J. Clin. Invest. 105: 673-681, 2000.
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[PubMed: 10712439]
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[Full Text: https://doi.org/10.1172/JCI5826]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/4/2011<br>Cassandra L. Kniffin - updated : 5/25/2010<br>Cassandra L. Kniffin - updated : 9/8/2009<br>Cassandra L. Kniffin - updated : 3/13/2008<br>Victor A. McKusick - updated : 2/21/2006
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Victor A. McKusick : 5/30/2003
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