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<title>
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Entry
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- *131370 - ENOLASE 3; ENO3
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- OMIM
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</ul>
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</div>
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</div>
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</nav>
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</div>
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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="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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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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<li>
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<a href="/history"> Search History </a>
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</li>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<p />
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*131370</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="#cloning">Cloning and Expression</a>
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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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 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/131370">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=ENSG00000108515;t=ENST00000519602" 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=2027" 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=131370" 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=ENSG00000108515;t=ENST00000519602" 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_001193503,NM_001374523,NM_001374524,NM_001976,NM_053013,XM_011523729" 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_053013" 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=131370" 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=11746&isoform_id=11746_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/ENO3" 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/31167,31170,34789,4378983,8546856,16878083,119610781,119610782,119610783,119610784,119610785,119610786,194374071,194374091,194374151,301897469,301897477,301897479,425906077,767991818,1756309474,1756309476" 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/P13929" 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=2027" 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=ENSG00000108515;t=ENST00000519602" 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=ENO3" 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=ENO3" 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+2027" 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/ENO3" 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:2027" 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/2027" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000519602.6&hgg_start=4948710&hgg_end=4957129&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3354" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=131370[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=131370[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/ENSG00000108515" 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=ENO3" 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=ENO3" 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=ENO3" 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=ENO3&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/PA27789" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:3354" 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/FBgn0000579.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:95395" 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/ENO3#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:95395" 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/2027/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=2027" 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=WBGene00011884;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-031006-5" 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">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2027" 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=ENO3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
|
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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131370
|
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</span>
|
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</span>
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
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|
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ENOLASE 3; ENO3
|
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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>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ENOLASE, BETA<br />
|
|
ENOLASE, MUSCLE-SPECIFIC; MSE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</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=ENO3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ENO3</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/17/96?start=-3&limit=10&highlight=96">17p13.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:4948710-4957129&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:4,948,710-4,957,129</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</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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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/96?start=-3&limit=10&highlight=96">
|
|
17p13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease XIII
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612932"> 612932 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
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<p><a href="#7" class="mim-tip-reference" title="Peshavaria, M., Day, I. N. M. <strong>Molecular structure of the human muscle-specific enolase gene (ENO3).</strong> Biochem. J. 275: 427-433, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1840492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1840492</a>] [<a href="https://doi.org/10.1042/bj2750427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1840492">Peshavaria and Day (1991)</a> determined that the ENO3 gene encodes a deduced 433-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1840492" 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="#1" class="mim-tip-reference" title="Chen, S.-H., Giblett, E. R. <strong>Enolase: human tissue distribution and evidence for three different loci.</strong> Ann. Hum. Genet. 39: 277-280, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1275442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1275442</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1976.tb00131.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1275442">Chen and Giblett (1976)</a> and <a href="#6" class="mim-tip-reference" title="Pearce, J. M., Edwards, Y. H., Harris, H. <strong>Human enolase isozymes: electrophoretic and biochemical evidence for three loci.</strong> Ann. Hum. Genet. 39: 263-276, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5939</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1976.tb00130.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5939">Pearce et al. (1976)</a> presented evidence for 3 enolase loci. By in situ hybridization studies using a probe for ENO2 (<a href="/entry/131360">131360</a>), <a href="#3" class="mim-tip-reference" title="Craig, S. P., Day, I. N. M., Thompson, R. J., Craig, I. W. <strong>Localization of human neurone-specific enolase to chromosome 12p13. (Abstract)</strong> Cytogenet. Cell Genet. 51: 980 only, 1989."None>Craig et al. (1989)</a> found small aggregates of grains at 1pter-p36, the site of ENO1 (<a href="/entry/172430">172430</a>), and some at 17pter-p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1275442+5939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Feo, S., Oliva, D., Barbieri, G., Xu, W., Fried, M., Giallongo, A. <strong>The gene for the muscle-specific enolase is on the short arm of human chromosome 17.</strong> Genomics 6: 192-194, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2303260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2303260</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90467-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2303260">Feo et al. (1990)</a> mapped the muscle-specific beta-enolase (ENO3) to chromosome 17pter-p11 by analysis of rodent-human somatic cell hybrids and transfectant cell lines carrying different portions of chromosome 17. This muscle-specific enzyme maps to the region encoding the gene cluster for the sarcomeric myosin heavy chains (MYH1; <a href="/entry/160730">160730</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2303260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Peshavaria, M., Day, I. N. M. <strong>Molecular structure of the human muscle-specific enolase gene (ENO3).</strong> Biochem. J. 275: 427-433, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1840492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1840492</a>] [<a href="https://doi.org/10.1042/bj2750427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1840492">Peshavaria and Day (1991)</a> determined that the ENO3 gene contains 12 exons and spans approximately 6 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1840492" 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 man with glycogen storage disease XIII (GSD13; <a href="/entry/612932">612932</a>), <a href="#2" class="mim-tip-reference" title="Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G., Bresolin, N. <strong>Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.</strong> Ann. Neurol. 50: 202-207, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11506403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11506403</a>] [<a href="https://doi.org/10.1002/ana.1095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11506403">Comi et al. (2001)</a> identified compound heterozygosity for 2 missense mutations in the ENO3 gene (G156D, <a href="#0001">131370.0001</a>; G374E, <a href="#0002">131370.0002</a>). Immunohistochemistry and immunoblotting detected dramatically reduced beta-enolase protein in this patient, while alpha-enolase was normally represented. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11506403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients, born to consanguineous parents, with GSD13, <a href="#5" class="mim-tip-reference" title="Musumeci, O., Brady, S., Rodolico, C., Ciranni, A., Montagnese, F., Aguennouz, M., Kirk, R., Allen E., Godfrey, R., Romeo, S., Murphy, E., Rahman, S., Quinlivan, R., Toscano, A. <strong>Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?</strong> J. Neurol. 261: 2424-2428, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25267339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25267339</a>] [<a href="https://doi.org/10.1007/s00415-014-7512-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25267339">Musumeci et al. (2014)</a> identified homozygous missense mutations in the ENO3 gene (N151S, <a href="#0003">131370.0003</a> and E187K, <a href="#0004">131370.0004</a>). The mutations were identified by Sanger sequencing of the ENO3 gene. Beta-enolase activity was reduced in muscle tissue of both patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25267339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 23-year-old patient with GSD13, <a href="#8" class="mim-tip-reference" title="Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R. <strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong> JIMD Rep. 50: 40-43, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31741825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31741825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31741825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31741825">Wigley et al. (2019)</a> identified a homozygous missense mutation in the ENO3 gene (C357Y; <a href="#0005">131370.0005</a>). The mutation was identified by Sanger sequencing of the ENO3 gene. Beta-enolase activity was reduced in patient muscle tissue. <a href="#8" class="mim-tip-reference" title="Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R. <strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong> JIMD Rep. 50: 40-43, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31741825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31741825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31741825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31741825">Wigley et al. (2019)</a> showed that the reduction in ENO3 activity resulted from decreased maximum velocity (slower rate of activity) of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31741825" 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 47-year-old man with adult onset of exercise-induced myalgias, generalized muscle weakness, and fatigability (GSD13; <a href="/entry/612932">612932</a>), <a href="#2" class="mim-tip-reference" title="Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G., Bresolin, N. <strong>Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.</strong> Ann. Neurol. 50: 202-207, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11506403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11506403</a>] [<a href="https://doi.org/10.1002/ana.1095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11506403">Comi et al. (2001)</a> identified compound heterozygosity for 2 mutations in the ENO3 gene: a 467G-A transition resulting in a gly156-to-asp (G156D) substitution and a 1121G-A transition resulting in a gly374-to-glu (G374E; <a href="#0002">131370.0002</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11506403" 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 XIII</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> rs121918404 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918404;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/rs121918404?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=rs121918404" 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=rs121918404" 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=RCV000018093 OR RCV000728367" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018093, RCV000728367" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018093...</a>
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<p>For discussion of the gly374-to-glu (G374E) mutation in the ENO3 gene that was found in compound heterozygous state in a patient with adult onset of exercise-induced myalgias, generalized muscle weakness, and fatigability (GSD13; <a href="/entry/612932">612932</a>) by <a href="#2" class="mim-tip-reference" title="Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G., Bresolin, N. <strong>Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.</strong> Ann. Neurol. 50: 202-207, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11506403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11506403</a>] [<a href="https://doi.org/10.1002/ana.1095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11506403">Comi et al. (2001)</a>, see <a href="#0001">131370.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11506403" 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>.0003 GLYCOGEN STORAGE DISEASE XIII</strong>
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ENO3, ASN151SER
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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> rs560867570 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs560867570;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/rs560867570?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=rs560867570" 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=rs560867570" 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=RCV000359516 OR RCV001753783" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000359516, RCV001753783" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000359516...</a>
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<p>In a 45-year-old Italian man, born to consanguineous parents, with glycogen storage disease type XIII (GSD13; <a href="/entry/612932">612932</a>), <a href="#5" class="mim-tip-reference" title="Musumeci, O., Brady, S., Rodolico, C., Ciranni, A., Montagnese, F., Aguennouz, M., Kirk, R., Allen E., Godfrey, R., Romeo, S., Murphy, E., Rahman, S., Quinlivan, R., Toscano, A. <strong>Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?</strong> J. Neurol. 261: 2424-2428, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25267339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25267339</a>] [<a href="https://doi.org/10.1007/s00415-014-7512-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25267339">Musumeci et al. (2014)</a> identified homozygosity for a c.452A-G transition in exon 7 of the ENO3 gene, resulting in an asn151-to-ser (N151S) substitution at a conserved residue. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the patient's unaffected mother, sib, and daughter; the patient's father was deceased and no sample was available for testing. Beta-enolase activity was reduced in patient muscle tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25267339" 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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<span class="mim-font">
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<strong>.0004 GLYCOGEN STORAGE DISEASE XIII</strong>
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ENO3, GLU187LYS
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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> rs772218199 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs772218199;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/rs772218199?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=rs772218199" 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=rs772218199" 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=RCV001707929" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001707929" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001707929</a>
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<p>In a 28-year-old Turkish man, born to consanguineous parents, with glycogen storage disease type XIII (GSD13; <a href="/entry/612932">612932</a>), <a href="#5" class="mim-tip-reference" title="Musumeci, O., Brady, S., Rodolico, C., Ciranni, A., Montagnese, F., Aguennouz, M., Kirk, R., Allen E., Godfrey, R., Romeo, S., Murphy, E., Rahman, S., Quinlivan, R., Toscano, A. <strong>Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?</strong> J. Neurol. 261: 2424-2428, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25267339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25267339</a>] [<a href="https://doi.org/10.1007/s00415-014-7512-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25267339">Musumeci et al. (2014)</a> identified homozygosity for a c.559G-A transition in exon 7 of the ENO3 gene, resulting in a glu187-to-lys (E187K) substitution at a highly conserved residue. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the patient's unaffected father and sib; the patient's mother was deceased and no sample was available for testing. Beta-enolase activity was reduced in patient muscle tissue. <a href="#8" class="mim-tip-reference" title="Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R. <strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong> JIMD Rep. 50: 40-43, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31741825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31741825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31741825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31741825">Wigley et al. (2019)</a> also studied this patient and predicted that the mutation may disrupt hydrogen bonding involved in the protein dimer interface. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25267339+31741825" 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 GLYCOGEN STORAGE DISEASE XIII</strong>
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ENO3, CYS357TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2151144481 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2151144481;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=rs2151144481" 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=rs2151144481" 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=RCV001707930" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001707930" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001707930</a>
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<p>In a 23-year-old Asian man with glycogen storage disease XIII (GSD13; <a href="/entry/612932">612932</a>), <a href="#8" class="mim-tip-reference" title="Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R. <strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong> JIMD Rep. 50: 40-43, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31741825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31741825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31741825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31741825">Wigley et al. (2019)</a> identified homozygosity for a c.1070G-A transition in exon 10 of the ENO3 gene, resulting in a cys357-to-tyr (C357Y) substitution at a highly conserved residue. The mutation was identified by Sanger sequencing. Beta-enolase activity was reduced in patient muscle tissue. <a href="#8" class="mim-tip-reference" title="Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R. <strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong> JIMD Rep. 50: 40-43, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31741825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31741825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31741825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/jmd2.12070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31741825">Wigley et al. (2019)</a> showed that the reduction in ENO3 activity resulted from decreased maximum velocity (slower rate of activity) of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31741825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chen1976" class="mim-anchor"></a>
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Chen, S.-H., Giblett, E. R.
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<strong>Enolase: human tissue distribution and evidence for three different loci.</strong>
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Ann. Hum. Genet. 39: 277-280, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1275442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1275442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1275442" 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/10.1111/j.1469-1809.1976.tb00131.x" target="_blank">Full Text</a>]
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Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G., Bresolin, N.
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<strong>Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.</strong>
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Ann. Neurol. 50: 202-207, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11506403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11506403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11506403" 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.1095" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Craig1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Craig, S. P., Day, I. N. M., Thompson, R. J., Craig, I. W.
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|
<strong>Localization of human neurone-specific enolase to chromosome 12p13. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 980 only, 1989.
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Feo1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Feo, S., Oliva, D., Barbieri, G., Xu, W., Fried, M., Giallongo, A.
|
|
<strong>The gene for the muscle-specific enolase is on the short arm of human chromosome 17.</strong>
|
|
Genomics 6: 192-194, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2303260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2303260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2303260" 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/10.1016/0888-7543(90)90467-9" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Musumeci2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Musumeci, O., Brady, S., Rodolico, C., Ciranni, A., Montagnese, F., Aguennouz, M., Kirk, R., Allen E., Godfrey, R., Romeo, S., Murphy, E., Rahman, S., Quinlivan, R., Toscano, A.
|
|
<strong>Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?</strong>
|
|
J. Neurol. 261: 2424-2428, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25267339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25267339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25267339" 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/s00415-014-7512-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Pearce1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pearce, J. M., Edwards, Y. H., Harris, H.
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<strong>Human enolase isozymes: electrophoretic and biochemical evidence for three loci.</strong>
|
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Ann. Hum. Genet. 39: 263-276, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5939" 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/10.1111/j.1469-1809.1976.tb00130.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Peshavaria1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peshavaria, M., Day, I. N. M.
|
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<strong>Molecular structure of the human muscle-specific enolase gene (ENO3).</strong>
|
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Biochem. J. 275: 427-433, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1840492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1840492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1840492" 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/10.1042/bj2750427" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Wigley2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R.
|
|
<strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong>
|
|
JIMD Rep. 50: 40-43, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31741825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31741825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31741825[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=31741825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jmd2.12070" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/24/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 9/24/2001
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</span>
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</div>
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</div>
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</div>
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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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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/24/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 06/09/2015<br>carol : 9/10/2014<br>mcolton : 5/1/2014<br>carol : 7/28/2009<br>ckniffin : 7/27/2009<br>joanna : 3/17/2004<br>alopez : 9/25/2001<br>terry : 9/24/2001<br>carol : 4/14/1999<br>dkim : 6/30/1998<br>supermim : 3/16/1992<br>carol : 12/10/1991<br>carol : 2/13/1991<br>supermim : 3/20/1990<br>supermim : 1/20/1990<br>supermim : 1/19/1990
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</span>
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 131370
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ENOLASE 3; ENO3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ENOLASE, BETA<br />
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ENOLASE, MUSCLE-SPECIFIC; MSE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ENO3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:4,948,710-4,957,129 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
17p13.2
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Glycogen storage disease XIII
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
612932
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>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>Peshavaria and Day (1991) determined that the ENO3 gene encodes a deduced 433-amino acid protein. </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>Chen and Giblett (1976) and Pearce et al. (1976) presented evidence for 3 enolase loci. By in situ hybridization studies using a probe for ENO2 (131360), Craig et al. (1989) found small aggregates of grains at 1pter-p36, the site of ENO1 (172430), and some at 17pter-p12. </p><p>Feo et al. (1990) mapped the muscle-specific beta-enolase (ENO3) to chromosome 17pter-p11 by analysis of rodent-human somatic cell hybrids and transfectant cell lines carrying different portions of chromosome 17. This muscle-specific enzyme maps to the region encoding the gene cluster for the sarcomeric myosin heavy chains (MYH1; 160730). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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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>Peshavaria and Day (1991) determined that the ENO3 gene contains 12 exons and spans approximately 6 kb. </p>
|
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</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In a man with glycogen storage disease XIII (GSD13; 612932), Comi et al. (2001) identified compound heterozygosity for 2 missense mutations in the ENO3 gene (G156D, 131370.0001; G374E, 131370.0002). Immunohistochemistry and immunoblotting detected dramatically reduced beta-enolase protein in this patient, while alpha-enolase was normally represented. </p><p>In 2 unrelated patients, born to consanguineous parents, with GSD13, Musumeci et al. (2014) identified homozygous missense mutations in the ENO3 gene (N151S, 131370.0003 and E187K, 131370.0004). The mutations were identified by Sanger sequencing of the ENO3 gene. Beta-enolase activity was reduced in muscle tissue of both patients. </p><p>In a 23-year-old patient with GSD13, Wigley et al. (2019) identified a homozygous missense mutation in the ENO3 gene (C357Y; 131370.0005). The mutation was identified by Sanger sequencing of the ENO3 gene. Beta-enolase activity was reduced in patient muscle tissue. Wigley et al. (2019) showed that the reduction in ENO3 activity resulted from decreased maximum velocity (slower rate of activity) of the enzyme. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE XIII</strong>
|
|
</span>
|
|
</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ENO3, GLY156ASP
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<br />
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SNP: rs121918403,
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gnomAD: rs121918403,
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ClinVar: RCV000018092, RCV001582485
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 47-year-old man with adult onset of exercise-induced myalgias, generalized muscle weakness, and fatigability (GSD13; 612932), Comi et al. (2001) identified compound heterozygosity for 2 mutations in the ENO3 gene: a 467G-A transition resulting in a gly156-to-asp (G156D) substitution and a 1121G-A transition resulting in a gly374-to-glu (G374E; 131370.0002) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GLYCOGEN STORAGE DISEASE XIII</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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ENO3, GLY374GLU
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<br />
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SNP: rs121918404,
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gnomAD: rs121918404,
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ClinVar: RCV000018093, RCV000728367
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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 gly374-to-glu (G374E) mutation in the ENO3 gene that was found in compound heterozygous state in a patient with adult onset of exercise-induced myalgias, generalized muscle weakness, and fatigability (GSD13; 612932) by Comi et al. (2001), see 131370.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 GLYCOGEN STORAGE DISEASE XIII</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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ENO3, ASN151SER
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<br />
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SNP: rs560867570,
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gnomAD: rs560867570,
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ClinVar: RCV000359516, RCV001753783
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 45-year-old Italian man, born to consanguineous parents, with glycogen storage disease type XIII (GSD13; 612932), Musumeci et al. (2014) identified homozygosity for a c.452A-G transition in exon 7 of the ENO3 gene, resulting in an asn151-to-ser (N151S) substitution at a conserved residue. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the patient's unaffected mother, sib, and daughter; the patient's father was deceased and no sample was available for testing. Beta-enolase activity was reduced in patient muscle tissue. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 GLYCOGEN STORAGE DISEASE XIII</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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ENO3, GLU187LYS
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<br />
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SNP: rs772218199,
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gnomAD: rs772218199,
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ClinVar: RCV001707929
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 28-year-old Turkish man, born to consanguineous parents, with glycogen storage disease type XIII (GSD13; 612932), Musumeci et al. (2014) identified homozygosity for a c.559G-A transition in exon 7 of the ENO3 gene, resulting in a glu187-to-lys (E187K) substitution at a highly conserved residue. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the patient's unaffected father and sib; the patient's mother was deceased and no sample was available for testing. Beta-enolase activity was reduced in patient muscle tissue. Wigley et al. (2019) also studied this patient and predicted that the mutation may disrupt hydrogen bonding involved in the protein dimer interface. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE XIII</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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ENO3, CYS357TYR
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<br />
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SNP: rs2151144481,
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ClinVar: RCV001707930
|
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|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 23-year-old Asian man with glycogen storage disease XIII (GSD13; 612932), Wigley et al. (2019) identified homozygosity for a c.1070G-A transition in exon 10 of the ENO3 gene, resulting in a cys357-to-tyr (C357Y) substitution at a highly conserved residue. The mutation was identified by Sanger sequencing. Beta-enolase activity was reduced in patient muscle tissue. Wigley et al. (2019) showed that the reduction in ENO3 activity resulted from decreased maximum velocity (slower rate of activity) of the enzyme. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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|
</span>
|
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</h4>
|
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<div>
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<p />
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|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, S.-H., Giblett, E. R.
|
|
<strong>Enolase: human tissue distribution and evidence for three different loci.</strong>
|
|
Ann. Hum. Genet. 39: 277-280, 1976.
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|
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|
|
[PubMed: 1275442]
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|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1976.tb00131.x]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G., Bresolin, N.
|
|
<strong>Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.</strong>
|
|
Ann. Neurol. 50: 202-207, 2001.
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|
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|
|
[PubMed: 11506403]
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[Full Text: https://doi.org/10.1002/ana.1095]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Craig, S. P., Day, I. N. M., Thompson, R. J., Craig, I. W.
|
|
<strong>Localization of human neurone-specific enolase to chromosome 12p13. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 980 only, 1989.
|
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Feo, S., Oliva, D., Barbieri, G., Xu, W., Fried, M., Giallongo, A.
|
|
<strong>The gene for the muscle-specific enolase is on the short arm of human chromosome 17.</strong>
|
|
Genomics 6: 192-194, 1990.
|
|
|
|
|
|
[PubMed: 2303260]
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|
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[Full Text: https://doi.org/10.1016/0888-7543(90)90467-9]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Musumeci, O., Brady, S., Rodolico, C., Ciranni, A., Montagnese, F., Aguennouz, M., Kirk, R., Allen E., Godfrey, R., Romeo, S., Murphy, E., Rahman, S., Quinlivan, R., Toscano, A.
|
|
<strong>Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?</strong>
|
|
J. Neurol. 261: 2424-2428, 2014.
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[PubMed: 25267339]
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[Full Text: https://doi.org/10.1007/s00415-014-7512-7]
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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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|
Pearce, J. M., Edwards, Y. H., Harris, H.
|
|
<strong>Human enolase isozymes: electrophoretic and biochemical evidence for three loci.</strong>
|
|
Ann. Hum. Genet. 39: 263-276, 1976.
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|
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|
|
[PubMed: 5939]
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|
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[Full Text: https://doi.org/10.1111/j.1469-1809.1976.tb00130.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Peshavaria, M., Day, I. N. M.
|
|
<strong>Molecular structure of the human muscle-specific enolase gene (ENO3).</strong>
|
|
Biochem. J. 275: 427-433, 1991.
|
|
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|
|
[PubMed: 1840492]
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[Full Text: https://doi.org/10.1042/bj2750427]
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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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Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., Hilton-Jones, D., Houlden, H., Heales, S., Quinlivan, R.
|
|
<strong>The need for biochemical testing in beta-enolase deficiency in the genomic era.</strong>
|
|
JIMD Rep. 50: 40-43, 2019.
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[PubMed: 31741825]
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[Full Text: https://doi.org/10.1002/jmd2.12070]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/24/2021<br>Ada Hamosh - updated : 9/24/2001
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 09/24/2021<br>mcolton : 06/09/2015<br>carol : 9/10/2014<br>mcolton : 5/1/2014<br>carol : 7/28/2009<br>ckniffin : 7/27/2009<br>joanna : 3/17/2004<br>alopez : 9/25/2001<br>terry : 9/24/2001<br>carol : 4/14/1999<br>dkim : 6/30/1998<br>supermim : 3/16/1992<br>carol : 12/10/1991<br>carol : 2/13/1991<br>supermim : 3/20/1990<br>supermim : 1/20/1990<br>supermim : 1/19/1990
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