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<title>
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Entry
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- *603942 - GLYCOGENIN 1; GYG1
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- OMIM
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</ul>
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</div>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<div class="row">
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<p />
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</div>
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<div id="mimAlertBanner">
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603942</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603942">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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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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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="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=ENSG00000163754;t=ENST00000345003" 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=2992" 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=603942" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
|
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</span>
|
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000163754;t=ENST00000345003" 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_001184720,NM_001184721,NM_004130,XM_017006275,XM_017006276" 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_004130" 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=603942" 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=06805&isoform_id=06805_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/GYG1" 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/496895,976400,1174167,4867997,5814085,12652581,13432151,20127457,34783423,49168578,119599300,119599301,119599302,119599303,119599304,119599305,119599306,119599307,189055328,194389654,296040505,296040507,1034632936,1034632938,2462589532,2462589534" 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/P46976" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2992" 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=ENSG00000163754;t=ENST00000345003" 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=GYG1" 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=GYG1" 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+2992" 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/GYG1" 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:2992" 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/2992" 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=chr3&hgg_gene=ENST00000345003.9&hgg_start=148991540&hgg_end=149031775&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:4699" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603942[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=603942[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/ENSG00000163754" 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=GYG1" 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=GYG1" 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=GYG1" 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=GYG1&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/PA29077" 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">
|
|
<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:4699" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0265191.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1351614" 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/GYG1#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:1351614" 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/2992/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=2992" 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://wormbase.org/db/gene/gene?name=WBGene00012020;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2910" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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>
|
|
</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:2992" 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=GYG1&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>
|
|
<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>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
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|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1228849007<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
603942
|
|
</span>
|
|
</span>
|
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</div>
|
|
</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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GLYCOGENIN 1; GYG1
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GYG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GYG1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/763?start=-3&limit=10&highlight=763">3q24</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:148991540-149031775&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'})">3:148,991,540-149,031,775</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=613507,616199" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/763?start=-3&limit=10&highlight=763">
|
|
3q24
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Glycogen storage disease XV
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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Polyglucosan body myopathy 2
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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.">
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<p>The GYG1 gene encodes glycogenin-1, a glycosyltransferase (<a href="https://enzyme.expasy.org/EC/2.4.1.186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.186</a>) that catalyzes 2 autoglucosylation reactions using UDP-glucose as the donor substrate during the initiation of glycogen synthesis. GYG1 is expressed in skeletal and heart muscle. During initiation, the covalent attachment of a glucose residue to glycogenin is followed by elongation to form an oligosaccharide chain (summary by <a href="#8" class="mim-tip-reference" title="Viskupic, E., Cao, Y., Zhang, W., Cheng, C., DePaoli-Roach, A. A., Roach, P. J. <strong>Rabbit skeletal muscle glycogenin. Molecular cloning and production of fully functional protein in Escherichia coli.</strong> J. Biol. Chem. 267: 25759-25763, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281472</a>]" pmid="1281472">Viskupic et al., 1992</a> and <a href="#7" class="mim-tip-reference" title="Nilsson, J., Halim, A., Moslemi, A.-R., Pedersen, A., Nilsson, J., Larson, G., Oldfors, A. <strong>Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.</strong> Biochim. Biophys. Acta 1822: 493-499, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22198226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22198226</a>] [<a href="https://doi.org/10.1016/j.bbadis.2011.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22198226">Nilsson et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22198226+1281472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Viskupic, E., Cao, Y., Zhang, W., Cheng, C., DePaoli-Roach, A. A., Roach, P. J. <strong>Rabbit skeletal muscle glycogenin. Molecular cloning and production of fully functional protein in Escherichia coli.</strong> J. Biol. Chem. 267: 25759-25763, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281472</a>]" pmid="1281472">Viskupic et al. (1992)</a> isolated cDNAs encoding glycogenin from rabbit muscle, rat, and cow. Recombinant mammalian glycogenin was enzymatically active and capable of self-glucosylation. After incubation with UDP-glucose, the recombinant protein was able to serve as a substrate for glycogen synthase, leading to the production of high M(r) polysaccharide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barbetti, F., Rocchi, M., Bossolasco, M., Cordera, R., Sbraccia, P., Finelli, P., Consalez, G. G. <strong>The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization.</strong> Biochem. Biophys. Res. Commun. 220: 72-77, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602861</a>] [<a href="https://doi.org/10.1006/bbrc.1996.0359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8602861">Barbetti et al. (1996)</a> identified a human glycogenin cDNA. The predicted 333-amino acid human protein shares 93% identity with rabbit muscle glycogenin. Northern blot analysis revealed that the 2.4-kb glycogenin mRNA was expressed prominently in human skeletal muscle and heart, and to a lesser extent in several other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Imagawa, E., Osaka, H., Yamashita, A., Shiina, M., Takahashi, E., Sugie, H., Nakashima, M., Tsurusaki, Y., Saitsu, H., Ogata, K., Matsumoto, N., Miyake, N. <strong>A hemizygous GYG2 mutation and Leigh syndrome: a possible link?</strong> Hum. Genet. 133: 225-234, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24100632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24100632</a>] [<a href="https://doi.org/10.1007/s00439-013-1372-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24100632">Imagawa et al. (2014)</a> noted that GYG1 is not expressed in liver or brain, tissues in which GYG2 (<a href="/entry/300198">300198</a>) is highly expressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24100632" 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 FISH, <a href="#1" class="mim-tip-reference" title="Barbetti, F., Rocchi, M., Bossolasco, M., Cordera, R., Sbraccia, P., Finelli, P., Consalez, G. G. <strong>The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization.</strong> Biochem. Biophys. Res. Commun. 220: 72-77, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602861</a>] [<a href="https://doi.org/10.1006/bbrc.1996.0359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8602861">Barbetti et al. (1996)</a> mapped the GYG1 gene to chromosome 3q25.1. Using somatic cell hybrid analysis, they confirmed the chromosome 3 localization and also identified intronless glycogenin-related sequences on chromosomes 12 and 13. By FISH, <a href="#4" class="mim-tip-reference" title="Lomako, J., Mazuruk, K., Lomako, W. M., Alonso, M. D., Whelan, W. J., Rodriguez, I. R. <strong>The human intron-containing gene for glycogenin maps to chromosome 3, band q24.</strong> Genomics 33: 519-522, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661012</a>] [<a href="https://doi.org/10.1006/geno.1996.0228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661012">Lomako et al. (1996)</a> mapped the GYG1 gene to chromosome 3q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8661012+8602861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Glycogen Storage Disease XV</em></strong></p><p>
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In a 27-year-old man with muscle weakness and cardiac arrhythmias associated with glycogen depletion, here designated glycogen storage disease XV (GSD15; <a href="/entry/613507">613507</a>), <a href="#6" class="mim-tip-reference" title="Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. <strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong> New Eng. J. Med. 362: 1203-1210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20357282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20357282</a>] [<a href="https://doi.org/10.1056/NEJMoa0900661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20357282">Moslemi et al. (2010)</a> identified compound heterozygosity for a nonsense (<a href="#0001">603942.0001</a>) and a missense (<a href="#0002">603942.0002</a>) mutation in the GYG1 gene. Western blotting demonstrated the presence of unglucosylated glycogenin-1 in the patient's skeletal and cardiac muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20357282" 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>Polyglucosan Body Myopathy 2</em></strong></p><p>
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In 7 unrelated patients with polyglucosan body myopathy-2 (PGBM2; <a href="/entry/616199">616199</a>), <a href="#5" class="mim-tip-reference" title="Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A. <strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong> Ann. Neurol. 76: 891-898, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.24284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25272951">Malfatti et al. (2014)</a> identified homozygous or compound heterozygous mutations in the GYG1 gene (see, e.g., <a href="#0003">603942.0003</a>-<a href="#0007">603942.0007</a>). The most common mutation was a splice site mutation (<a href="#0003">603942.0003</a>), found in the homozygous or compound heterozygous state in 4 patients. Segregation analysis of the mutations in families was not reported. Unlike the patient reported by <a href="#6" class="mim-tip-reference" title="Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. <strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong> New Eng. J. Med. 362: 1203-1210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20357282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20357282</a>] [<a href="https://doi.org/10.1056/NEJMoa0900661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20357282">Moslemi et al. (2010)</a>, none of the 7 patients with PGBM2 had evidence of cardiac involvement. Some patients had absence of GYG1 protein in skeletal muscle tissue, whereas others had reduced levels of the protein with some residual function. Analysis of glycogenin-1 in skeletal muscle of 1 patient who had a deletion of the C terminus of GYG1 (<a href="#0004">603942.0004</a>) indicated that the protein was autoglucosylated, but that elongation of the glycogen polymer was impaired. These findings suggested that the C terminus of GYG1 is important for glycogen synthase (GYS1; <a href="/entry/138570">138570</a>) activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20357282+25272951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#2" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human GYG1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/603942" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603942[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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<strong>.0001 GLYCOGEN STORAGE DISEASE XV (1 patient)</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">rs727502871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502871;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=rs727502871" 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=rs727502871" 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=RCV000150102 OR RCV000599598 OR RCV001090152 OR RCV001850033" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150102, RCV000599598, RCV001090152, RCV001850033" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150102...</a>
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<p>In a 27-year-old man with muscle weakness and cardiac arrhythmias associated with glycogen depletion (GSD15; <a href="/entry/613507">613507</a>), <a href="#6" class="mim-tip-reference" title="Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. <strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong> New Eng. J. Med. 362: 1203-1210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20357282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20357282</a>] [<a href="https://doi.org/10.1056/NEJMoa0900661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20357282">Moslemi et al. (2010)</a> identified compound heterozygosity for a 1-bp deletion (487delG) in exon 5 of the GYG1 gene, resulting in a frameshift and premature termination sequence at codon 167, and a 248C-T transition in exon 3 of the GYG1 gene, resulting in a thr83-to-met (T83M; <a href="#0002">603942.0002</a>) substitution at a highly conserved residue. The patient's unaffected mother was heterozygous for the deletion, and his unaffected father and 2 brothers were heterozygous for the missense mutation. Neither mutation was found in 200 control chromosomes of similar ancestry. Functional studies in Chinese hamster ovary (CHO) cells showed that recombinant wildtype glycogenin-1 was autoglucosylated, whereas recombinant T83M-mutant glycogenin-1 was not. RFLP analysis and sequencing demonstrated that the allele carrying the 487delG mutation was not expressed at the transcript level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20357282" 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>.0002 GLYCOGEN STORAGE DISEASE XV (1 patient)</strong>
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GYG1, THR83MET
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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> rs267606858 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606858;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/rs267606858?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=rs267606858" 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=rs267606858" 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=RCV000006318" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006318" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006318</a>
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<p>For discussion of the thr83-to-met (T83M) mutation in the GYG1 gene that was found in compound heterozygous state in a patient with glycogen storage disease XV (GSD15; <a href="/entry/613507">613507</a>) by <a href="#6" class="mim-tip-reference" title="Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. <strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong> New Eng. J. Med. 362: 1203-1210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20357282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20357282</a>] [<a href="https://doi.org/10.1056/NEJMoa0900661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20357282">Moslemi et al. (2010)</a>, see <a href="#0001">603942.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20357282" 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 in vitro expression studies, <a href="#7" class="mim-tip-reference" title="Nilsson, J., Halim, A., Moslemi, A.-R., Pedersen, A., Nilsson, J., Larson, G., Oldfors, A. <strong>Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.</strong> Biochim. Biophys. Acta 1822: 493-499, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22198226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22198226</a>] [<a href="https://doi.org/10.1016/j.bbadis.2011.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22198226">Nilsson et al. (2012)</a> demonstrated that the T83M mutant was incapable of autoglucosylation after addition of UDP-glucose. The mutant protein was unable to catalyze the initial glucose-O-tyrosine 195 linkage. However, T83M was glucosylated when coexpressed with the enzymatically active T195F variant. The findings explained why the patient reported by <a href="#6" class="mim-tip-reference" title="Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. <strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong> New Eng. J. Med. 362: 1203-1210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20357282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20357282</a>] [<a href="https://doi.org/10.1056/NEJMoa0900661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20357282">Moslemi et al. (2010)</a> who only expressed the T83M mutation had glycogen depletion in skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22198226+20357282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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GYG1, IVS2DS, G-C, +3
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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> rs370652040 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs370652040;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/rs370652040?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=rs370652040" 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=rs370652040" 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=RCV000150098 OR RCV000387284 OR RCV001054146 OR RCV001090151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150098, RCV000387284, RCV001054146, RCV001090151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150098...</a>
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<p>In 2 unrelated patients with onset of polyglucosan body myopathy-2 (PGBM2; <a href="/entry/616199">616199</a>) in the first 2 decades of life, <a href="#5" class="mim-tip-reference" title="Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A. <strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong> Ann. Neurol. 76: 891-898, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.24284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25272951">Malfatti et al. (2014)</a> identified a homozygous G-to-C transversion (c.143+3G-C) in intron 2 of the GYG1 gene, resulting in aberrant splicing with the skipping of exon 2, a frameshift, and premature termination (Asp3GlufsTer4). Two additional unrelated patients with later onset of the disorder were found to be compound heterozygous for this splice site mutation and another pathogenic GYG1 mutation (see, e.g., R324X, <a href="#0004">603942.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25272951" 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 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727502869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502869;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/rs727502869?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=rs727502869" 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=rs727502869" 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=RCV000150099 OR RCV002498688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150099, RCV002498688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150099...</a>
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<p>In a woman with onset of polyglucosan body myopathy-2 (PGBM2; <a href="/entry/616199">616199</a>) at age 49 years, <a href="#5" class="mim-tip-reference" title="Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A. <strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong> Ann. Neurol. 76: 891-898, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.24284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25272951">Malfatti et al. (2014)</a> identified compound heterozygous mutations in the GYG1 gene: a c.970C-T transition in exon 8, resulting in an arg324-to-ter (R324X) substitution, and a splice site mutation resulting in a truncated protein (Asp3GlufsTer4; <a href="#0003">603942.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25272951" 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 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs143137713 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143137713;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/rs143137713?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=rs143137713" 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=rs143137713" 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=RCV000150100 OR RCV000413263 OR RCV000703555 OR RCV001195381 OR RCV003147344 OR RCV003422039 OR RCV003993828" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150100, RCV000413263, RCV000703555, RCV001195381, RCV003147344, RCV003422039, RCV003993828" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150100...</a>
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<p>In a man with onset of polyglucosan body myopathy-2 (PGBM2; <a href="/entry/616199">616199</a>) at age 39 years, <a href="#5" class="mim-tip-reference" title="Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A. <strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong> Ann. Neurol. 76: 891-898, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.24284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25272951">Malfatti et al. (2014)</a> identified compound heterozygous mutations in the GYG1 gene: a c.304G-C transversion in exon 4, resulting in an asp102-to-his (D102H) substitution, and a c.749G-A transition in exon 6, resulting in a trp250-to-ter (W250X; <a href="#0006">603942.0006</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25272951" 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 POLYGLUCOSAN BODY MYOPATHY 2</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">rs727502870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502870;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=rs727502870" 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=rs727502870" 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=RCV000150101" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150101" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150101</a>
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<p>For discussion of the trp250-to-ter (W250X) mutation in the GYG1 gene that was found in compound heterozygous state in a patient with polyglucosan body myopathy-2 (PGBM2; <a href="/entry/616199">616199</a>) by <a href="#5" class="mim-tip-reference" title="Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A. <strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong> Ann. Neurol. 76: 891-898, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.24284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25272951">Malfatti et al. (2014)</a>, see <a href="#0005">603942.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25272951" 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 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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GYG1, 1-BP DEL, 484G
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000150102 OR RCV000599598 OR RCV001090152 OR RCV001850033" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150102, RCV000599598, RCV001090152, RCV001850033" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150102...</a>
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<p>In a woman with onset of polyglucosan body myopathy-2 (PGBM2; <a href="/entry/616199">616199</a>) at age 61 years, <a href="#5" class="mim-tip-reference" title="Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A. <strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong> Ann. Neurol. 76: 891-898, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.24284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25272951">Malfatti et al. (2014)</a> identified a homozygous 1-bp deletion (c.484delG) in exon 5 of the GYG1 gene, resulting in a frameshift and premature termination (Thr163AspfsTer5). Her muscle weakness was confined to the intrinsic hand muscles and fingers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25272951" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<a id="Barbetti1996" class="mim-anchor"></a>
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Barbetti, F., Rocchi, M., Bossolasco, M., Cordera, R., Sbraccia, P., Finelli, P., Consalez, G. G.
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<strong>The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization.</strong>
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[<a href="https://doi.org/10.1006/bbrc.1996.0359" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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Imagawa, E., Osaka, H., Yamashita, A., Shiina, M., Takahashi, E., Sugie, H., Nakashima, M., Tsurusaki, Y., Saitsu, H., Ogata, K., Matsumoto, N., Miyake, N.
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<strong>A hemizygous GYG2 mutation and Leigh syndrome: a possible link?</strong>
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Hum. Genet. 133: 225-234, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24100632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24100632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24100632" 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/10.1007/s00439-013-1372-6" target="_blank">Full Text</a>]
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Lomako, J., Mazuruk, K., Lomako, W. M., Alonso, M. D., Whelan, W. J., Rodriguez, I. R.
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<strong>The human intron-containing gene for glycogenin maps to chromosome 3, band q24.</strong>
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Genomics 33: 519-522, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661012</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661012" 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/10.1006/geno.1996.0228" target="_blank">Full Text</a>]
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Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A.
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<strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong>
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Ann. Neurol. 76: 891-898, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25272951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25272951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25272951[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=25272951" 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/ana.24284" target="_blank">Full Text</a>]
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Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A.
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<strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong>
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New Eng. J. Med. 362: 1203-1210, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20357282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20357282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20357282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa0900661" target="_blank">Full Text</a>]
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<a id="Nilsson2012" class="mim-anchor"></a>
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Nilsson, J., Halim, A., Moslemi, A.-R., Pedersen, A., Nilsson, J., Larson, G., Oldfors, A.
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<strong>Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.</strong>
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Biochim. Biophys. Acta 1822: 493-499, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22198226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22198226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22198226" 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/10.1016/j.bbadis.2011.11.017" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Viskupic1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Viskupic, E., Cao, Y., Zhang, W., Cheng, C., DePaoli-Roach, A. A., Roach, P. J.
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<strong>Rabbit skeletal muscle glycogenin. Molecular cloning and production of fully functional protein in Escherichia coli.</strong>
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J. Biol. Chem. 267: 25759-25763, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</li>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/16/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/21/2015<br>Cassandra L. Kniffin - updated : 10/24/2014<br>Cassandra L. Kniffin - updated : 9/22/2014<br>Marla J. F. O'Neill - updated : 7/27/2010
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 6/29/1999
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/01/2024
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</span>
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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 : 02/01/2018<br>alopez : 02/16/2017<br>carol : 01/26/2015<br>mcolton : 1/22/2015<br>ckniffin : 1/21/2015<br>alopez : 10/24/2014<br>carol : 9/22/2014<br>ckniffin : 9/22/2014<br>carol : 9/10/2014<br>carol : 9/10/2014<br>carol : 10/4/2012<br>carol : 10/20/2011<br>wwang : 7/28/2010<br>terry : 7/27/2010<br>mgross : 6/30/1999<br>mgross : 6/30/1999<br>mgross : 6/29/1999
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603942
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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GLYCOGENIN 1; GYG1
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</h3>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GYG1</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>SNOMEDCT:</strong> 1228849007;
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 3q24
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:148,991,540-149,031,775 </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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<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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<td rowspan="2">
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<span class="mim-font">
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3q24
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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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?Glycogen storage disease XV
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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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613507
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Polyglucosan body myopathy 2
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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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616199
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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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<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>The GYG1 gene encodes glycogenin-1, a glycosyltransferase (EC 2.4.1.186) that catalyzes 2 autoglucosylation reactions using UDP-glucose as the donor substrate during the initiation of glycogen synthesis. GYG1 is expressed in skeletal and heart muscle. During initiation, the covalent attachment of a glucose residue to glycogenin is followed by elongation to form an oligosaccharide chain (summary by Viskupic et al., 1992 and Nilsson et al., 2012). </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>Viskupic et al. (1992) isolated cDNAs encoding glycogenin from rabbit muscle, rat, and cow. Recombinant mammalian glycogenin was enzymatically active and capable of self-glucosylation. After incubation with UDP-glucose, the recombinant protein was able to serve as a substrate for glycogen synthase, leading to the production of high M(r) polysaccharide. </p><p>Barbetti et al. (1996) identified a human glycogenin cDNA. The predicted 333-amino acid human protein shares 93% identity with rabbit muscle glycogenin. Northern blot analysis revealed that the 2.4-kb glycogenin mRNA was expressed prominently in human skeletal muscle and heart, and to a lesser extent in several other tissues. </p><p>Imagawa et al. (2014) noted that GYG1 is not expressed in liver or brain, tissues in which GYG2 (300198) is highly expressed. </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 FISH, Barbetti et al. (1996) mapped the GYG1 gene to chromosome 3q25.1. Using somatic cell hybrid analysis, they confirmed the chromosome 3 localization and also identified intronless glycogenin-related sequences on chromosomes 12 and 13. By FISH, Lomako et al. (1996) mapped the GYG1 gene to chromosome 3q24. </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">
|
|
<p><strong><em>Glycogen Storage Disease XV</em></strong></p><p>
|
|
In a 27-year-old man with muscle weakness and cardiac arrhythmias associated with glycogen depletion, here designated glycogen storage disease XV (GSD15; 613507), Moslemi et al. (2010) identified compound heterozygosity for a nonsense (603942.0001) and a missense (603942.0002) mutation in the GYG1 gene. Western blotting demonstrated the presence of unglucosylated glycogenin-1 in the patient's skeletal and cardiac muscle. </p><p><strong><em>Polyglucosan Body Myopathy 2</em></strong></p><p>
|
|
In 7 unrelated patients with polyglucosan body myopathy-2 (PGBM2; 616199), Malfatti et al. (2014) identified homozygous or compound heterozygous mutations in the GYG1 gene (see, e.g., 603942.0003-603942.0007). The most common mutation was a splice site mutation (603942.0003), found in the homozygous or compound heterozygous state in 4 patients. Segregation analysis of the mutations in families was not reported. Unlike the patient reported by Moslemi et al. (2010), none of the 7 patients with PGBM2 had evidence of cardiac involvement. Some patients had absence of GYG1 protein in skeletal muscle tissue, whereas others had reduced levels of the protein with some residual function. Analysis of glycogenin-1 in skeletal muscle of 1 patient who had a deletion of the C terminus of GYG1 (603942.0004) indicated that the protein was autoglucosylated, but that elongation of the glycogen polymer was impaired. These findings suggested that the C terminus of GYG1 is important for glycogen synthase (GYS1; 138570) activity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human GYG1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </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>
|
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<strong>7 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE XV (1 patient)</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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GYG1, 1-BP DEL, 487G
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<br />
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|
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SNP: rs727502871,
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ClinVar: RCV000150102, RCV000599598, RCV001090152, RCV001850033
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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 27-year-old man with muscle weakness and cardiac arrhythmias associated with glycogen depletion (GSD15; 613507), Moslemi et al. (2010) identified compound heterozygosity for a 1-bp deletion (487delG) in exon 5 of the GYG1 gene, resulting in a frameshift and premature termination sequence at codon 167, and a 248C-T transition in exon 3 of the GYG1 gene, resulting in a thr83-to-met (T83M; 603942.0002) substitution at a highly conserved residue. The patient's unaffected mother was heterozygous for the deletion, and his unaffected father and 2 brothers were heterozygous for the missense mutation. Neither mutation was found in 200 control chromosomes of similar ancestry. Functional studies in Chinese hamster ovary (CHO) cells showed that recombinant wildtype glycogenin-1 was autoglucosylated, whereas recombinant T83M-mutant glycogenin-1 was not. RFLP analysis and sequencing demonstrated that the allele carrying the 487delG mutation was not expressed at the transcript level. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOGEN STORAGE DISEASE XV (1 patient)</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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GYG1, THR83MET
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<br />
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SNP: rs267606858,
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gnomAD: rs267606858,
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ClinVar: RCV000006318
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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 thr83-to-met (T83M) mutation in the GYG1 gene that was found in compound heterozygous state in a patient with glycogen storage disease XV (GSD15; 613507) by Moslemi et al. (2010), see 603942.0001. </p><p>In in vitro expression studies, Nilsson et al. (2012) demonstrated that the T83M mutant was incapable of autoglucosylation after addition of UDP-glucose. The mutant protein was unable to catalyze the initial glucose-O-tyrosine 195 linkage. However, T83M was glucosylated when coexpressed with the enzymatically active T195F variant. The findings explained why the patient reported by Moslemi et al. (2010) who only expressed the T83M mutation had glycogen depletion in skeletal muscle. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 POLYGLUCOSAN BODY MYOPATHY 2</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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GYG1, IVS2DS, G-C, +3
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<br />
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SNP: rs370652040,
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gnomAD: rs370652040,
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ClinVar: RCV000150098, RCV000387284, RCV001054146, RCV001090151
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated patients with onset of polyglucosan body myopathy-2 (PGBM2; 616199) in the first 2 decades of life, Malfatti et al. (2014) identified a homozygous G-to-C transversion (c.143+3G-C) in intron 2 of the GYG1 gene, resulting in aberrant splicing with the skipping of exon 2, a frameshift, and premature termination (Asp3GlufsTer4). Two additional unrelated patients with later onset of the disorder were found to be compound heterozygous for this splice site mutation and another pathogenic GYG1 mutation (see, e.g., R324X, 603942.0004). </p>
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<strong>.0004 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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GYG1, ARG324TER
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<br />
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SNP: rs727502869,
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gnomAD: rs727502869,
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ClinVar: RCV000150099, RCV002498688
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<p>In a woman with onset of polyglucosan body myopathy-2 (PGBM2; 616199) at age 49 years, Malfatti et al. (2014) identified compound heterozygous mutations in the GYG1 gene: a c.970C-T transition in exon 8, resulting in an arg324-to-ter (R324X) substitution, and a splice site mutation resulting in a truncated protein (Asp3GlufsTer4; 603942.0003). </p>
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<span class="mim-font">
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<strong>.0005 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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GYG1, ASP102HIS
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<br />
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SNP: rs143137713,
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gnomAD: rs143137713,
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ClinVar: RCV000150100, RCV000413263, RCV000703555, RCV001195381, RCV003147344, RCV003422039, RCV003993828
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<span class="mim-text-font">
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<p>In a man with onset of polyglucosan body myopathy-2 (PGBM2; 616199) at age 39 years, Malfatti et al. (2014) identified compound heterozygous mutations in the GYG1 gene: a c.304G-C transversion in exon 4, resulting in an asp102-to-his (D102H) substitution, and a c.749G-A transition in exon 6, resulting in a trp250-to-ter (W250X; 603942.0006) substitution. </p>
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<span class="mim-font">
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<strong>.0006 POLYGLUCOSAN BODY MYOPATHY 2</strong>
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</h4>
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<span class="mim-text-font">
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GYG1, TRP250TER
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<br />
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SNP: rs727502870,
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ClinVar: RCV000150101
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<div>
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<span class="mim-text-font">
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<p>For discussion of the trp250-to-ter (W250X) mutation in the GYG1 gene that was found in compound heterozygous state in a patient with polyglucosan body myopathy-2 (PGBM2; 616199) by Malfatti et al. (2014), see 603942.0005. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0007 POLYGLUCOSAN BODY MYOPATHY 2</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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GYG1, 1-BP DEL, 484G
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<br />
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ClinVar: RCV000150102, RCV000599598, RCV001090152, RCV001850033
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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 woman with onset of polyglucosan body myopathy-2 (PGBM2; 616199) at age 61 years, Malfatti et al. (2014) identified a homozygous 1-bp deletion (c.484delG) in exon 5 of the GYG1 gene, resulting in a frameshift and premature termination (Thr163AspfsTer5). Her muscle weakness was confined to the intrinsic hand muscles and fingers. </p>
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</span>
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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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<p />
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</div>
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Barbetti, F., Rocchi, M., Bossolasco, M., Cordera, R., Sbraccia, P., Finelli, P., Consalez, G. G.
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<strong>The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization.</strong>
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Biochem. Biophys. Res. Commun. 220: 72-77, 1996.
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[PubMed: 8602861]
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[Full Text: https://doi.org/10.1006/bbrc.1996.0359]
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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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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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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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Imagawa, E., Osaka, H., Yamashita, A., Shiina, M., Takahashi, E., Sugie, H., Nakashima, M., Tsurusaki, Y., Saitsu, H., Ogata, K., Matsumoto, N., Miyake, N.
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<strong>A hemizygous GYG2 mutation and Leigh syndrome: a possible link?</strong>
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Hum. Genet. 133: 225-234, 2014.
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[PubMed: 24100632]
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[Full Text: https://doi.org/10.1007/s00439-013-1372-6]
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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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Lomako, J., Mazuruk, K., Lomako, W. M., Alonso, M. D., Whelan, W. J., Rodriguez, I. R.
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<strong>The human intron-containing gene for glycogenin maps to chromosome 3, band q24.</strong>
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Genomics 33: 519-522, 1996.
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[PubMed: 8661012]
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[Full Text: https://doi.org/10.1006/geno.1996.0228]
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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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Malfatti, E., Nilsson, J., Hedberg-Oldfors, C., Hernandez-Lain, A., Michel, F., Dominguez-Gonzalez, C., Viennet, G., Akman, H. O., Kornblum, C., Van den Bergh, P., Romero, N. B., Engel, A. G., DiMauro, S., Oldfors, A.
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<strong>A new muscle glycogen storage disease associated with glycogenin-1 deficiency.</strong>
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Ann. Neurol. 76: 891-898, 2014.
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[PubMed: 25272951]
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[Full Text: https://doi.org/10.1002/ana.24284]
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</li>
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<li>
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<p class="mim-text-font">
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Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A.
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<strong>Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.</strong>
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New Eng. J. Med. 362: 1203-1210, 2010.
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[PubMed: 20357282]
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[Full Text: https://doi.org/10.1056/NEJMoa0900661]
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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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Nilsson, J., Halim, A., Moslemi, A.-R., Pedersen, A., Nilsson, J., Larson, G., Oldfors, A.
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<strong>Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.</strong>
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Biochim. Biophys. Acta 1822: 493-499, 2012.
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[PubMed: 22198226]
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[Full Text: https://doi.org/10.1016/j.bbadis.2011.11.017]
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<p class="mim-text-font">
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Viskupic, E., Cao, Y., Zhang, W., Cheng, C., DePaoli-Roach, A. A., Roach, P. J.
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<strong>Rabbit skeletal muscle glycogenin. Molecular cloning and production of fully functional protein in Escherichia coli.</strong>
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J. Biol. Chem. 267: 25759-25763, 1992.
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[PubMed: 1281472]
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Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 1/21/2015<br>Cassandra L. Kniffin - updated : 10/24/2014<br>Cassandra L. Kniffin - updated : 9/22/2014<br>Marla J. F. O'Neill - updated : 7/27/2010
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