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<title>
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Entry
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- *138130 - GLUTAMATE DEHYDROGENASE 1; GLUD1
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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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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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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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 style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</form>
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*138130</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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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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="#biochemicalFeatures">Biochemical Features</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/138130">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></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=ENSG00000148672;t=ENST00000277865" 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=2746" 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=138130" 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=ENSG00000148672;t=ENST00000277865" 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_001318900,NM_001318901,NM_001318902,NM_001318904,NM_001318905,NM_001318906,NM_005271,XM_047425099,XM_047425100" 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_005271" 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=138130" 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=11748&isoform_id=11748_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/GLUD1" 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/31707,31799,118541,183054,183056,183058,183060,579924,4262783,4885281,5738667,25303963,62088392,62897195,86577794,119600706,119600707,119600708,119600709,119600710,193784123,193787727,194378192,194382662,194387002,194387028,308219670,310900629,317040164,974141156,974141159,974141162,974141166,974141168,974141170,2217276821,2217276823,2462518680,2462518682" 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/P00367" 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=2746" 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=ENSG00000148672;t=ENST00000277865" 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=GLUD1" 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=GLUD1" 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+2746" 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/GLUD1" 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:2746" 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/2746" 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=chr10&hgg_gene=ENST00000277865.5&hgg_start=87050202&hgg_end=87094843&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/genes/HGNC:4335" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=138130[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=138130[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/GLUD1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000148672" 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=GLUD1" 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=GLUD1" 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=GLUD1" 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=GLUD1&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/PA28737" 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:4335" 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/FBgn0001098.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:95753" 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/GLUD1#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:95753" 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/2746/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=2746" 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=WBGene00014095;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-030114-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2746" 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=GLUD1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 718106009<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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138130
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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GLUTAMATE DEHYDROGENASE 1; GLUD1
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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GLUD<br />
|
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GDH
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GLUD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GLUD1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/10/359?start=-3&limit=10&highlight=359">10q23.2</a>
|
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:87050202-87094843&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'})">10:87,050,202-87,094,843</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
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<a href="/geneMap/10/359?start=-3&limit=10&highlight=359">
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10q23.2
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<a href="/entry/606762"> 606762 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/138130" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>L-glutamate dehydrogenase (<a href="https://enzyme.expasy.org/EC/1.4.1.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.4.1.3</a>) has a central role in nitrogen metabolism in plants and animals. Glutamate dehydrogenase is found in all organisms and catalyzes the oxidative deamination of 1-glutamate to 2-oxoglutarate (<a href="#20" class="mim-tip-reference" title="Smith, T. J., Peterson, P. E., Schmidt, T., Fang, J., Stanley, C. A. <strong>Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation.</strong> J. Molec. Biol. 307: 707-720, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254391</a>] [<a href="https://doi.org/10.1006/jmbi.2001.4499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254391">Smith et al., 2001</a>). Glutamate, the main substrate of GLUD, is present in brain in concentrations higher than in other organs. In nervous tissue, GLUD appears to function in both the synthesis and the catabolism of glutamate and perhaps in ammonia detoxification (<a href="#10" class="mim-tip-reference" title="Mavrothalassitis, G., Tzimagiorgis, G., Mitsialis, A., Zannis, V., Plaitakis, A., Papamatheakis, J., Moschonas, N. <strong>Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family.</strong> Proc. Nat. Acad. Sci. 85: 3494-3498, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368458</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368458">Mavrothalassitis et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11254391+3368458" 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>Cloning and Expression</strong>
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<p><a href="#7" class="mim-tip-reference" title="Hanauer, A., Mandel, J. L., Mattei, M. G. <strong>X-linked and autosomal sequences corresponding to glutamate dehydrogenase (GLUD) and to an anonymous cDNA. (Abstract)</strong> Cytogenet. Cell Genet. 40: 647-648, 1985."None>Hanauer et al. (1985)</a> detected a cDNA clone expressed in skeletal muscle that they concluded is homologous with GLUD because of close similarities of its deduced amino acid sequence to that of the bovine protein. <a href="#10" class="mim-tip-reference" title="Mavrothalassitis, G., Tzimagiorgis, G., Mitsialis, A., Zannis, V., Plaitakis, A., Papamatheakis, J., Moschonas, N. <strong>Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family.</strong> Proc. Nat. Acad. Sci. 85: 3494-3498, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368458</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368458">Mavrothalassitis et al. (1988)</a> reported the characterization of 4 human liver cDNA clones encoding the entire sequence of GLUD. Blot-hybridization analysis of genomic DNA suggested that the human enzyme is encoded by a small multigene family. Multiple GLUD-related transcripts were identified in human, monkey, and rabbit tissues. <a href="#13" class="mim-tip-reference" title="Nakatani, Y., Schneider, M., Banner, C., Freese, E. <strong>Complete nucleotide sequence of human glutamate dehydrogenase cDNA.</strong> Nucleic Acids Res. 16: 6237 only, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3399399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3399399</a>] [<a href="https://doi.org/10.1093/nar/16.13.6237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3399399">Nakatani et al. (1988)</a> reported the complete sequence of GLUD cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3368458+3399399" 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="#21" class="mim-tip-reference" title="Son, J., Lyssiotis, C. A., Ying, H., Wang, X., Hua, S., Ligorio, M., Perera, R. M., Ferrone, C. R., Mullarky, E., Shyh-Chang, N., Kang, Y., Fleming, J. B., Bardeesy, N., Asara, J. M., Haigis, M. C., DePinho, R. A., Cantley, L. C., Kimmelman, A. C. <strong>Glutamine supports pancreatic cancer growth through a KRAS-regulated metabolic pathway.</strong> Nature 496: 101-105, 2013. Note: Erratum: Nature 499: 504 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23535601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23535601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23535601[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23535601">Son et al. (2013)</a> reported that whereas most cells use GLUD1 to convert glutamine-derived glutamate into alpha-ketoglutarate in the mitochondria to fuel the tricarboxylic acid cycle, pancreatic ductal adenocarcinoma (see <a href="/entry/260350">260350</a>) cells rely on a distinct pathway in which glutamine-derived aspartate is transported into the cytoplasm, where it can be converted into oxaloacetate by aspartate transaminase (GOT1; <a href="/entry/138180">138180</a>). <a href="#21" class="mim-tip-reference" title="Son, J., Lyssiotis, C. A., Ying, H., Wang, X., Hua, S., Ligorio, M., Perera, R. M., Ferrone, C. R., Mullarky, E., Shyh-Chang, N., Kang, Y., Fleming, J. B., Bardeesy, N., Asara, J. M., Haigis, M. C., DePinho, R. A., Cantley, L. C., Kimmelman, A. C. <strong>Glutamine supports pancreatic cancer growth through a KRAS-regulated metabolic pathway.</strong> Nature 496: 101-105, 2013. Note: Erratum: Nature 499: 504 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23535601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23535601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23535601[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23535601">Son et al. (2013)</a> found that knockdown of KRAS (<a href="/entry/190070">190070</a>) in PDAC cells resulted in a marked increase in GLUD1 and a decrease in GOT1 expression at both the transcriptional and the protein levels. Additionally, they showed that expression on GOT1 increased and GLUD1 decreased in an oncogenic KRAS-dependent manner in vivo. <a href="#21" class="mim-tip-reference" title="Son, J., Lyssiotis, C. A., Ying, H., Wang, X., Hua, S., Ligorio, M., Perera, R. M., Ferrone, C. R., Mullarky, E., Shyh-Chang, N., Kang, Y., Fleming, J. B., Bardeesy, N., Asara, J. M., Haigis, M. C., DePinho, R. A., Cantley, L. C., Kimmelman, A. C. <strong>Glutamine supports pancreatic cancer growth through a KRAS-regulated metabolic pathway.</strong> Nature 496: 101-105, 2013. Note: Erratum: Nature 499: 504 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23535601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23535601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23535601[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23535601">Son et al. (2013)</a> concluded that their findings demonstrated that the reprogramming of glutamine metabolism is mediated by oncogenic KRAS, the signature genetic alteration in PDAC, through the transcriptional upregulation and repression of key metabolic enzymes in this pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23535601" 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="#23" class="mim-tip-reference" title="Spinelli, J. B., Yoon, H., Ringel, A. E., Jeanfavre, S., Clish, C. B., Haigis, M. C. <strong>Metabolic recycling of ammonia via glutamate dehydrogenase supports breast cancer biomass.</strong> Science 358: 941-946, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29025995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29025995</a>] [<a href="https://doi.org/10.1126/science.aam9305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29025995">Spinelli et al. (2017)</a> found that human breast cancer cells primarily assimilate ammonia through reductive amination catalyzed by glutamate dehydrogenase (GDH); secondary reactions enable other amino acids, such as proline and aspartate, to directly acquire this nitrogen. Metabolic recycling of ammonia accelerated proliferation of breast cancer (see <a href="/entry/114480">114480</a>). In mice, ammonia accumulated in the tumor microenvironment and was used directly to generate amino acids through GDH activity. <a href="#23" class="mim-tip-reference" title="Spinelli, J. B., Yoon, H., Ringel, A. E., Jeanfavre, S., Clish, C. B., Haigis, M. C. <strong>Metabolic recycling of ammonia via glutamate dehydrogenase supports breast cancer biomass.</strong> Science 358: 941-946, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29025995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29025995</a>] [<a href="https://doi.org/10.1126/science.aam9305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29025995">Spinelli et al. (2017)</a> concluded that ammonia is not only a secreted waste product but also a fundamental nitrogen source that can support tumor biomass. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29025995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By in situ hybridization, <a href="#7" class="mim-tip-reference" title="Hanauer, A., Mandel, J. L., Mattei, M. G. <strong>X-linked and autosomal sequences corresponding to glutamate dehydrogenase (GLUD) and to an anonymous cDNA. (Abstract)</strong> Cytogenet. Cell Genet. 40: 647-648, 1985."None>Hanauer et al. (1985)</a> mapped the GLUD1 gene to 10q23-q24.</p><p>By analysis of somatic cell hybrids and by in situ hybridization, <a href="#1" class="mim-tip-reference" title="Anagnou, N. P., Seuanez, H., Modi, W., O'Brien, S. J., Papmatheakis, J., Moschonas, N. <strong>Chromosomal mapping of the human glutamate dehydrogenase (GLUD) genes to chromosomes 10q21.1-21.2 and Xq26-28. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A170 only, 1989."None>Anagnou et al. (1989)</a> confirmed the assignment of GLUD1 to chromosome 10, but concluded that the precise localization is 10q21.1-q21.2. By in situ hybridization, <a href="#9" class="mim-tip-reference" title="Jung, K. Y., Warter, S., Rumpler, Y. <strong>Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization.</strong> Ann. Genet. 32: 109-110, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757358</a>]" pmid="2757358">Jung et al. (1989)</a> mapped the gene to 10q23, and <a href="#4" class="mim-tip-reference" title="Deloukas, P., Dauwerse, J. G., Moschonas, N. K., van Ommen, G. J. B., van Loon, A. P. G. M. <strong>Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked.</strong> Genomics 17: 676-681, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244384</a>] [<a href="https://doi.org/10.1006/geno.1993.1389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244384">Deloukas et al. (1993)</a> refined the localization to 10q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8244384+2757358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a RFLP in the study of recombinant inbred strains, <a href="#19" class="mim-tip-reference" title="Shaughnessy, J., Jr., Mock, B., Duncan, R., Potter, M., Banner, C. <strong>A restriction fragment length polymorphism at murine Glud locus cosegregates with Rib-1, Es-10, and Tcra on chromosome 14.</strong> Nucleic Acids Res. 17: 2881 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2566156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2566156</a>] [<a href="https://doi.org/10.1093/nar/17.7.2881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2566156">Shaughnessy et al. (1989)</a> found that the murine Glud locus cosegregates with Rib1 (<a href="/entry/180440">180440</a>) and Tcra (see <a href="/entry/186880">186880</a>), which are known to be on mouse chromosome 14. By genomic Southern analysis of a panel of Chinese hamster/mouse somatic cell hybrids, <a href="#27" class="mim-tip-reference" title="Tzimagiorgis, G., Adamson, M. C., Kozak, C. A., Moschonas, N. K. <strong>Chromosomal mapping of glutamate dehydrogenase gene sequences to mouse chromosomes 7 and 14.</strong> Genomics 10: 83-88, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2045113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2045113</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90487-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2045113">Tzimagiorgis et al. (1991)</a> concluded that there are 2 independent mouse GLUD loci, termed Glud and Glud2, which map to chromosome 14 and 7, respectively. By homology, the Glud locus on chromosome 14 is likely to be the functional one. On the other hand, their evidence appeared to indicate that the Glud2 gene on mouse chromosome 7 is not a processed pseudogene. Both chromosome 7 and 14 of the mouse have regions of linkage homology to human 10q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2566156+2045113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudogenes</em></strong></p><p>
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Several GLUD pseudogenes have been identified. <a href="#7" class="mim-tip-reference" title="Hanauer, A., Mandel, J. L., Mattei, M. G. <strong>X-linked and autosomal sequences corresponding to glutamate dehydrogenase (GLUD) and to an anonymous cDNA. (Abstract)</strong> Cytogenet. Cell Genet. 40: 647-648, 1985."None>Hanauer et al. (1985)</a> and <a href="#1" class="mim-tip-reference" title="Anagnou, N. P., Seuanez, H., Modi, W., O'Brien, S. J., Papmatheakis, J., Moschonas, N. <strong>Chromosomal mapping of the human glutamate dehydrogenase (GLUD) genes to chromosomes 10q21.1-21.2 and Xq26-28. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A170 only, 1989."None>Anagnou et al. (1989)</a> confirmed the presence of a pseudogene, GLUDP1, on Xq26-28. <a href="#9" class="mim-tip-reference" title="Jung, K. Y., Warter, S., Rumpler, Y. <strong>Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization.</strong> Ann. Genet. 32: 109-110, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757358</a>]" pmid="2757358">Jung et al. (1989)</a> mapped the GLUDP1 pseudogene to Xq24. <a href="#11" class="mim-tip-reference" title="Michaelidis, T. M., Tzimagiorgis, G., Moschonas, N. K., Papamatheakis, J. <strong>The human glutamate dehydrogenase gene family: gene organization and structural characterization.</strong> Genomics 16: 150-160, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486350</a>] [<a href="https://doi.org/10.1006/geno.1993.1152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486350">Michaelidis et al. (1993)</a> identified 4 presumed truncated pseudogenes, at least 2 of which may have been generated by retrotransposition. <a href="#4" class="mim-tip-reference" title="Deloukas, P., Dauwerse, J. G., Moschonas, N. K., van Ommen, G. J. B., van Loon, A. P. G. M. <strong>Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked.</strong> Genomics 17: 676-681, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244384</a>] [<a href="https://doi.org/10.1006/geno.1993.1389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244384">Deloukas et al. (1993)</a> concluded that there are 2 GLUD pseudogenes on 10q which are not linked to the functional gene: GLUDP2 at 10q11.2 and GLUDP3 at 10q22.1. <a href="#28" class="mim-tip-reference" title="Tzimagiorgis, G., Leversha, M. A., Chroniary, K., Goulielmos, G., Sargent, C. A., Ferguson-Smith, M., Moschonas, N. K. <strong>Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2.</strong> Hum. Genet. 91: 433-438, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8314555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8314555</a>] [<a href="https://doi.org/10.1007/BF00217767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8314555">Tzimagiorgis et al. (1993)</a> mapped another locus, termed GLUDP5, to 10p11.2. They pointed out that the work of their group (<a href="#11" class="mim-tip-reference" title="Michaelidis, T. M., Tzimagiorgis, G., Moschonas, N. K., Papamatheakis, J. <strong>The human glutamate dehydrogenase gene family: gene organization and structural characterization.</strong> Genomics 16: 150-160, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486350</a>] [<a href="https://doi.org/10.1006/geno.1993.1152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486350">Michaelidis et al., 1993</a>) raised the number of human GLUD loci to 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8244384+8314555+2757358+8486350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Michaelidis, T. M., Tzimagiorgis, G., Moschonas, N. K., Papamatheakis, J. <strong>The human glutamate dehydrogenase gene family: gene organization and structural characterization.</strong> Genomics 16: 150-160, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486350</a>] [<a href="https://doi.org/10.1006/geno.1993.1152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486350">Michaelidis et al. (1993)</a> determined that the GLUD1 gene is about 45 kb long and contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486350" 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="Hanauer, A., Mandel, J. L., Mattei, M. G. <strong>X-linked and autosomal sequences corresponding to glutamate dehydrogenase (GLUD) and to an anonymous cDNA. (Abstract)</strong> Cytogenet. Cell Genet. 40: 647-648, 1985."None>Hanauer et al. (1985)</a> suggested that the GLUD clones they detected may be useful in study of the postulated relationship of partial glutamate dehydrogenase deficiency and a form of olivopontocerebellar atrophy (OPCA). Plaitakis et al. (<a href="#17" class="mim-tip-reference" title="Plaitakis, A., Nicklas, W. J., Desnick, R. J. <strong>Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome.</strong> Ann. Neurol. 7: 297-303, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7377755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7377755</a>] [<a href="https://doi.org/10.1002/ana.410070403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7377755">1980</a>, <a href="#15" class="mim-tip-reference" " title="Plaitakis, A., Berl, S., Yahr, M. D. <strong>Abnormal glutamate metabolism in an adult-onset degenerative neurological disorder.</strong> Science 216: 193-196, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6121377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6121377</a>] [<a href="https://doi.org/10.1126/science.6121377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6121377">1982</a>, <a href="#16" class="mim-tip-reference" title="Plaitakis, A., Berl, S., Yahr, M. D. <strong>Neurological disorders associated with deficiency of glutamate dehydrogenase.</strong> Ann. Neurol. 15: 144-153, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6703655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6703655</a>] [<a href="https://doi.org/10.1002/ana.410150206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6703655">1984</a>) and <a href="#5" class="mim-tip-reference" title="Duvoisin, R. C., Chokroverty, S., Lepore, F., Nicklas, W. J. <strong>Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy.</strong> Neurology 33: 1322-1326, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6684227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6684227</a>] [<a href="https://doi.org/10.1212/wnl.33.10.1332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6684227">Duvoisin et al. (1983)</a> found partial deficiency of GLUD in fibroblasts and leukocytes of some patients with OPCA. <a href="#29" class="mim-tip-reference" title="Yamaguchi, T., Hayashi, K., Murakami, H., Ota, K., Maruyama, S. <strong>Glutamate dehydrogenase deficiency in spinocerebellar degeneration.</strong> Neurochem. Res. 7: 627-636, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6811963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6811963</a>] [<a href="https://doi.org/10.1007/BF00965128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6811963">Yamaguchi et al. (1982)</a> and <a href="#22" class="mim-tip-reference" title="Sorbi, S., Tonini, S., Giannini, E., Piacentini, S., Marini, P., Amaducci, L. <strong>Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy.</strong> Ann. Neurol. 19: 239-245, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3963768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3963768</a>] [<a href="https://doi.org/10.1002/ana.410190304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3963768">Sorbi et al. (1986)</a> found a similar deficiency in platelets of OPCA patients. <a href="#2" class="mim-tip-reference" title="Barbeau, A., Charbonneau, M., Cloutier, T. <strong>Leucocyte glutamate dehydrogenase in various hereditary ataxias.</strong> Canad. J. Neurol. Sci. 7: 421-424, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7214257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7214257</a>] [<a href="https://doi.org/10.1017/s031716710002299x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7214257">Barbeau et al. (1980)</a> could find no abnormality of GLUD in 8 patients with a dominant form of OPCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6684227+3963768+6811963+7214257+6121377+6703655+7377755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 infants with hyperinsulinemic hypoglycemia and hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#24" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y., Hsu, B., Poncz, M. <strong>Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract)</strong> Diabetes 46 (suppl. 1): 217A only, 1997."None>Stanley et al. (1997)</a> identified heterozygosity for activating mutations in the GLUD1 gene (<a href="#0001">138130.0001</a> and <a href="#0002">138130.0002</a>).</p><p>In a study of 4 sporadic and 2 familial cases, <a href="#25" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., Poncz, M. <strong>Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.</strong> New Eng. J. Med. 338: 1352-1357, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571255</a>] [<a href="https://doi.org/10.1056/NEJM199805073381904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9571255">Stanley et al. (1998)</a> identified 5 missense mutations that alter 1 of 4 amino acids between residues 446 and 454 in exons 11 and 12 of the GLUD1 gene (see, e.g., <a href="#0003">138130.0003</a>-<a href="#0005">138130.0005</a>), a region that encodes the allosteric domain. All of these mutations were associated with a diminished inhibitory effect of guanosine triphosphate (GTP) on glutamate dehydrogenase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9571255" 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 an infant with the syndrome of hypoglycemia due to congenital hyperinsulinism combined with persistent unexplained hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#24" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y., Hsu, B., Poncz, M. <strong>Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract)</strong> Diabetes 46 (suppl. 1): 217A only, 1997."None>Stanley et al. (1997)</a> identified heterozygosity for a C-to-T transition at nucleotide 1519 in the GLUD1 gene, predicted to cause a his454-to-tyr (H454Y) substitution in the mature protein. The patient was a sporadic case. Also see <a href="#0002">138130.0002</a>.</p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909731 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909731;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/rs121909731?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=rs121909731" 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=rs121909731" 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=RCV000017502 OR RCV000185923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017502, RCV000185923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017502...</a>
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<p>In an infant with the syndrome of hypoglycemia due to congenital hyperinsulinism combined with persistent unexplained hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#24" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y., Hsu, B., Poncz, M. <strong>Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract)</strong> Diabetes 46 (suppl. 1): 217A only, 1997."None>Stanley et al. (1997)</a> identified heterozygosity for a C-to-T transition at nucleotide 1493 in the GLUD1 gene, predicted to cause a ser445-to-leu (S448L) substitution in the mature GDH peptide. Both of the mutations reported by <a href="#24" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y., Hsu, B., Poncz, M. <strong>Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract)</strong> Diabetes 46 (suppl. 1): 217A only, 1997."None>Stanley et al. (1997)</a> (see <a href="#0001">138130.0001</a>) affected only 1 of the 2 GDH alleles and were not present in the parents, indicating that the disorder is autosomal dominant.</p><p>In 3 unrelated Japanese infants with congenital hyperinsulinism-hyperammonemia, <a href="#12" class="mim-tip-reference" title="Miki, Y., Taki, T., Ohura, T., Kato, H., Yanagisawa, M., Hayashi, Y. <strong>Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.</strong> J. Pediat. 136: 69-72, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636977</a>] [<a href="https://doi.org/10.1016/s0022-3476(00)90052-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10636977">Miki et al. (2000)</a> identified heterozygosity for the S445L mutation in the allosteric domain of the GLUD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636977" 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 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</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">rs121909732 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909732;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=rs121909732" 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=rs121909732" 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=RCV000017503 OR RCV004797764" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017503, RCV004797764" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017503...</a>
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<p>In affected members of 2 separate families with hyperinsulinemic hypoglycemia and hyperammonemia (<a href="/entry/606762">606762</a>), one from Canada and the other from Italy, <a href="#25" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., Poncz, M. <strong>Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.</strong> New Eng. J. Med. 338: 1352-1357, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571255</a>] [<a href="https://doi.org/10.1056/NEJM199805073381904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9571255">Stanley et al. (1998)</a> identified heterozygosity for a C-to-T transition at nucleotide 1514, resulting in a ser448-to-pro (S448P) substitution. In each family, a mother and child were affected. This mutation results in less severe hypoglycemia than that seen in patients with a sporadic mutation. Basal enzyme activity was 38% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9571255" 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 family 2 studied by <a href="#26" class="mim-tip-reference" title="Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A. <strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong> J. Pediat. 132: 9-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70477-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9469993">Thornton et al. (1998)</a>, <a href="#6" class="mim-tip-reference" title="Glaser, B., Thornton, P. S., Herold, K., Stanley, C. A. <strong>Clinical and molecular heterogeneity of familial hyperinsulinism. (Letter)</strong> J. Pediat. 133: 801-802, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843361</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70160-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843361">Glaser et al. (1998)</a> identified the S448P mutation in the GLUD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9469993+9843361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</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">rs121909733 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909733;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=rs121909733" 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=rs121909733" 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=RCV000017504" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017504" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017504</a>
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<p>In 2 unrelated individuals with hyperinsulinism-hyperammonemia syndrome (<a href="/entry/606762">606762</a>), <a href="#25" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., Poncz, M. <strong>Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.</strong> New Eng. J. Med. 338: 1352-1357, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571255</a>] [<a href="https://doi.org/10.1056/NEJM199805073381904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9571255">Stanley et al. (1998)</a> identified heterozygosity for a G-to-A transition at nucleotide 1508 of the GLUD1 gene, resulting in a gly446-to-ser (G446S) substitution at codon 446. This dominant mutation causes severe hypoglycemia and a 2- to 5-fold increase in plasma ammonium concentration due to decreased sensitivity to GTP-induced inhibition, which was demonstrated in the patients' lymphoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9571255" 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 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</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">rs121909734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909734;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=rs121909734" 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=rs121909734" 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=RCV000017505" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017505" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017505</a>
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<p>In 2 unrelated individuals with the hyperinsulinism/hyperammonemia syndrome (<a href="/entry/606762">606762</a>), <a href="#25" class="mim-tip-reference" title="Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., Poncz, M. <strong>Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.</strong> New Eng. J. Med. 338: 1352-1357, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571255</a>] [<a href="https://doi.org/10.1056/NEJM199805073381904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9571255">Stanley et al. (1998)</a> identified heterozygosity for a G-to-A transition at nucleotide 1509 of the GLUD1 gene, resulting in a gly446-to-asp (G446D) substitution. This dominant mutation results in severe hypoglycemia and a 2- to 5-fold increase in plasma ammonium concentration due to decreased sensitivity to GTP-induced inhibition, which was demonstrated in the patients' lymphoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9571255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</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">rs121909735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909735;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=rs121909735" 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=rs121909735" 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=RCV000017506" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017506" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017506</a>
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<p>In a 6-month-old Japanese girl with hyperinsulinemic hypoglycemia and hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#12" class="mim-tip-reference" title="Miki, Y., Taki, T., Ohura, T., Kato, H., Yanagisawa, M., Hayashi, Y. <strong>Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.</strong> J. Pediat. 136: 69-72, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636977</a>] [<a href="https://doi.org/10.1016/s0022-3476(00)90052-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10636977">Miki et al. (2000)</a> identified heterozygosity for a 1059A-C transversion in exon 7 of the GLUD1 gene, resulting in a glu296-to-ala (E296A) substitution within the catalytic domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</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">rs121909736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909736;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=rs121909736" 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=rs121909736" 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=RCV000017507" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017507" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017507</a>
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<p>In a 6-day-old Japanese boy with hyperinsulinemic hypoglycemia and hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#12" class="mim-tip-reference" title="Miki, Y., Taki, T., Ohura, T., Kato, H., Yanagisawa, M., Hayashi, Y. <strong>Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.</strong> J. Pediat. 136: 69-72, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636977</a>] [<a href="https://doi.org/10.1016/s0022-3476(00)90052-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10636977">Miki et al. (2000)</a> identified heterozygosity for a 966G-A transition in exon 7 of the GLUD1 gene, resulting in an arg265-to-lys (R265K) substitution within the catalytic domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
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GLUD1, ARG221CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs56275071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs56275071;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=rs56275071" 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=rs56275071" 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=RCV000017508 OR RCV001818165" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017508, RCV001818165" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017508...</a>
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<p>In 5 affected members of a 3-generation family with hyperinsulinemic hypoglycemia and hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#18" class="mim-tip-reference" title="Santer, R., Kinner, M., Passarge, M., Superti-Furga, A., Mayatepek, E., Meissner, T., Schneppenheim, R., Schaub, J. <strong>Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.</strong> Hum. Genet. 108: 66-71, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214910</a>] [<a href="https://doi.org/10.1007/s004390000432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214910">Santer et al. (2001)</a> identified heterozygosity for an 833C-T transition in exon 6 of the GLUD1 gene, resulting in an arg221-to-cys (R221C) substitution within the catalytic domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214910" 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>.0009 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
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GLUD1, ARG269HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909737 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909737;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=rs121909737" 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=rs121909737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017509 OR RCV001091338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017509, RCV001091338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017509...</a>
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<span class="mim-text-font">
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<p>In 9 affected members of 6 unrelated families with hyperinsulinemic hypoglycemia and hyperammonemia (<a href="/entry/606762">606762</a>), <a href="#18" class="mim-tip-reference" title="Santer, R., Kinner, M., Passarge, M., Superti-Furga, A., Mayatepek, E., Meissner, T., Schneppenheim, R., Schaub, J. <strong>Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.</strong> Hum. Genet. 108: 66-71, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214910</a>] [<a href="https://doi.org/10.1007/s004390000432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214910">Santer et al. (2001)</a> identified heterozygosity for a 978G-A transition in exon 7 of the GLUD1 gene, resulting in an arg269-to-his (R269H) substitution within the catalytic domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214910" 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>See Also:</strong>
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<a href="#Colon1986" class="mim-tip-reference" title="Colon, A. D., Plaitakis, A., Perakis, A., Berl, S., Clarke, D. D. <strong>Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain.</strong> J. Neurochem. 46: 1811-1819, 1986.">Colon et al. (1986)</a>; <a href="#Hanauer1987" class="mim-tip-reference" title="Hanauer, A., Mattei, M. G., Mandel, J. L. <strong>Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10.</strong> Nucleic Acids Res. 15: 6308 only, 1987.">Hanauer et al. (1987)</a>; <a href="#Nelson1977" class="mim-tip-reference" title="Nelson, R. L., Povey, M. S., Hopkinson, D. A., Harris, H. <strong>Electrophoresis of human L-glutamate dehydrogenase: tissue distribution and preliminary population survey.</strong> Biochem. Genet. 15: 87-91, 1977.">Nelson et al. (1977)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Anagnou1989" class="mim-anchor"></a>
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Anagnou, N. P., Seuanez, H., Modi, W., O'Brien, S. J., Papmatheakis, J., Moschonas, N.
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<strong>Chromosomal mapping of the human glutamate dehydrogenase (GLUD) genes to chromosomes 10q21.1-21.2 and Xq26-28. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A170 only, 1989.
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Barbeau, A., Charbonneau, M., Cloutier, T.
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<strong>Leucocyte glutamate dehydrogenase in various hereditary ataxias.</strong>
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Canad. J. Neurol. Sci. 7: 421-424, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7214257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7214257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7214257" 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/10.1017/s031716710002299x" target="_blank">Full Text</a>]
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Colon, A. D., Plaitakis, A., Perakis, A., Berl, S., Clarke, D. D.
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<strong>Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain.</strong>
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J. Neurochem. 46: 1811-1819, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3701332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3701332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3701332" 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.1471-4159.1986.tb08500.x" target="_blank">Full Text</a>]
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Deloukas, P., Dauwerse, J. G., Moschonas, N. K., van Ommen, G. J. B., van Loon, A. P. G. M.
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<strong>Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked.</strong>
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Genomics 17: 676-681, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1389" target="_blank">Full Text</a>]
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<a id="Duvoisin1983" class="mim-anchor"></a>
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Duvoisin, R. C., Chokroverty, S., Lepore, F., Nicklas, W. J.
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<strong>Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy.</strong>
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Neurology 33: 1322-1326, 1983.
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Spinelli, J. B., Yoon, H., Ringel, A. E., Jeanfavre, S., Clish, C. B., Haigis, M. C.
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<strong>Metabolic recycling of ammonia via glutamate dehydrogenase supports breast cancer biomass.</strong>
|
|
Science 358: 941-946, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29025995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29025995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29025995" 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/10.1126/science.aam9305" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Stanley1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanley, C. A., Lieu, Y., Hsu, B., Poncz, M.
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<strong>Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract)</strong>
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|
Diabetes 46 (suppl. 1): 217A only, 1997.
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</p>
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</div>
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<a id="25" class="mim-anchor"></a>
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<a id="Stanley1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., Poncz, M.
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|
<strong>Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.</strong>
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New Eng. J. Med. 338: 1352-1357, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9571255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199805073381904" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Thornton1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A.
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|
<strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong>
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J. Pediat. 132: 9-14, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9469993" 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/s0022-3476(98)70477-9" target="_blank">Full Text</a>]
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Tzimagiorgis1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tzimagiorgis, G., Adamson, M. C., Kozak, C. A., Moschonas, N. K.
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<strong>Chromosomal mapping of glutamate dehydrogenase gene sequences to mouse chromosomes 7 and 14.</strong>
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Genomics 10: 83-88, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2045113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2045113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2045113" 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(91)90487-y" target="_blank">Full Text</a>]
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Tzimagiorgis1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tzimagiorgis, G., Leversha, M. A., Chroniary, K., Goulielmos, G., Sargent, C. A., Ferguson-Smith, M., Moschonas, N. K.
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<strong>Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2.</strong>
|
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Hum. Genet. 91: 433-438, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8314555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8314555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8314555" 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/BF00217767" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Yamaguchi1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamaguchi, T., Hayashi, K., Murakami, H., Ota, K., Maruyama, S.
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<strong>Glutamate dehydrogenase deficiency in spinocerebellar degeneration.</strong>
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Neurochem. Res. 7: 627-636, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6811963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6811963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6811963" 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/BF00965128" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/12/2018
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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 : 5/30/2013<br>Marla J. F. O'Neill - updated : 3/20/2006<br>Cassandra L. Kniffin - reorganized : 3/21/2002<br>John A. Phillips, III - updated : 2/20/2002<br>John A. Phillips, III - updated : 10/4/2001<br>Ada Hamosh - updated : 4/26/2001<br>Victor A. McKusick - updated : 1/31/2001<br>Victor A. McKusick - updated : 4/11/2000<br>Ada Hamosh - updated : 6/17/1998<br>Victor A. McKusick - updated : 6/10/1998<br>Victor A. McKusick - updated : 4/15/1998<br>Victor A. McKusick - edited : 2/21/1997
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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="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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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/12/2018
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</span>
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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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mgross : 10/04/2013<br>alopez : 10/1/2013<br>alopez : 5/30/2013<br>terry : 9/8/2010<br>wwang : 4/20/2009<br>carol : 3/30/2006<br>carol : 3/28/2006<br>terry : 3/27/2006<br>carol : 3/20/2006<br>carol : 3/25/2002<br>carol : 3/21/2002<br>carol : 3/21/2002<br>ckniffin : 3/20/2002<br>alopez : 2/20/2002<br>cwells : 10/9/2001<br>cwells : 10/4/2001<br>alopez : 5/8/2001<br>terry : 4/26/2001<br>mcapotos : 2/6/2001<br>mcapotos : 2/2/2001<br>terry : 1/31/2001<br>mcapotos : 5/2/2000<br>mcapotos : 4/27/2000<br>terry : 4/11/2000<br>carol : 6/4/1999<br>dholmes : 7/9/1998<br>carol : 6/18/1998<br>terry : 6/17/1998<br>carol : 6/10/1998<br>carol : 4/20/1998<br>terry : 4/15/1998<br>mark : 2/21/1997<br>terry : 7/18/1994<br>davew : 6/28/1994<br>mimadm : 4/14/1994<br>carol : 11/12/1993<br>carol : 9/21/1993<br>carol : 8/18/1993
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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 class="container visible-print-block">
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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> 138130
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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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GLUTAMATE DEHYDROGENASE 1; GLUD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GLUD<br />
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GDH
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</span>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GLUD1</em></strong>
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</span>
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<div>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 718106009;
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</span>
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<br />
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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: 10q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:87,050,202-87,094,843 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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10q23.2
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</td>
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<td>
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<span class="mim-font">
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Hyperinsulinism-hyperammonemia syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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606762
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>L-glutamate dehydrogenase (EC 1.4.1.3) has a central role in nitrogen metabolism in plants and animals. Glutamate dehydrogenase is found in all organisms and catalyzes the oxidative deamination of 1-glutamate to 2-oxoglutarate (Smith et al., 2001). Glutamate, the main substrate of GLUD, is present in brain in concentrations higher than in other organs. In nervous tissue, GLUD appears to function in both the synthesis and the catabolism of glutamate and perhaps in ammonia detoxification (Mavrothalassitis et al., 1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hanauer et al. (1985) detected a cDNA clone expressed in skeletal muscle that they concluded is homologous with GLUD because of close similarities of its deduced amino acid sequence to that of the bovine protein. Mavrothalassitis et al. (1988) reported the characterization of 4 human liver cDNA clones encoding the entire sequence of GLUD. Blot-hybridization analysis of genomic DNA suggested that the human enzyme is encoded by a small multigene family. Multiple GLUD-related transcripts were identified in human, monkey, and rabbit tissues. Nakatani et al. (1988) reported the complete sequence of GLUD cDNA. </p><p>Son et al. (2013) reported that whereas most cells use GLUD1 to convert glutamine-derived glutamate into alpha-ketoglutarate in the mitochondria to fuel the tricarboxylic acid cycle, pancreatic ductal adenocarcinoma (see 260350) cells rely on a distinct pathway in which glutamine-derived aspartate is transported into the cytoplasm, where it can be converted into oxaloacetate by aspartate transaminase (GOT1; 138180). Son et al. (2013) found that knockdown of KRAS (190070) in PDAC cells resulted in a marked increase in GLUD1 and a decrease in GOT1 expression at both the transcriptional and the protein levels. Additionally, they showed that expression on GOT1 increased and GLUD1 decreased in an oncogenic KRAS-dependent manner in vivo. Son et al. (2013) concluded that their findings demonstrated that the reprogramming of glutamine metabolism is mediated by oncogenic KRAS, the signature genetic alteration in PDAC, through the transcriptional upregulation and repression of key metabolic enzymes in this pathway. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
|
</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Spinelli et al. (2017) found that human breast cancer cells primarily assimilate ammonia through reductive amination catalyzed by glutamate dehydrogenase (GDH); secondary reactions enable other amino acids, such as proline and aspartate, to directly acquire this nitrogen. Metabolic recycling of ammonia accelerated proliferation of breast cancer (see 114480). In mice, ammonia accumulated in the tumor microenvironment and was used directly to generate amino acids through GDH activity. Spinelli et al. (2017) concluded that ammonia is not only a secreted waste product but also a fundamental nitrogen source that can support tumor biomass. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>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">
|
|
<p>By in situ hybridization, Hanauer et al. (1985) mapped the GLUD1 gene to 10q23-q24.</p><p>By analysis of somatic cell hybrids and by in situ hybridization, Anagnou et al. (1989) confirmed the assignment of GLUD1 to chromosome 10, but concluded that the precise localization is 10q21.1-q21.2. By in situ hybridization, Jung et al. (1989) mapped the gene to 10q23, and Deloukas et al. (1993) refined the localization to 10q23.3. </p><p>Using a RFLP in the study of recombinant inbred strains, Shaughnessy et al. (1989) found that the murine Glud locus cosegregates with Rib1 (180440) and Tcra (see 186880), which are known to be on mouse chromosome 14. By genomic Southern analysis of a panel of Chinese hamster/mouse somatic cell hybrids, Tzimagiorgis et al. (1991) concluded that there are 2 independent mouse GLUD loci, termed Glud and Glud2, which map to chromosome 14 and 7, respectively. By homology, the Glud locus on chromosome 14 is likely to be the functional one. On the other hand, their evidence appeared to indicate that the Glud2 gene on mouse chromosome 7 is not a processed pseudogene. Both chromosome 7 and 14 of the mouse have regions of linkage homology to human 10q. </p><p><strong><em>Pseudogenes</em></strong></p><p>
|
|
Several GLUD pseudogenes have been identified. Hanauer et al. (1985) and Anagnou et al. (1989) confirmed the presence of a pseudogene, GLUDP1, on Xq26-28. Jung et al. (1989) mapped the GLUDP1 pseudogene to Xq24. Michaelidis et al. (1993) identified 4 presumed truncated pseudogenes, at least 2 of which may have been generated by retrotransposition. Deloukas et al. (1993) concluded that there are 2 GLUD pseudogenes on 10q which are not linked to the functional gene: GLUDP2 at 10q11.2 and GLUDP3 at 10q22.1. Tzimagiorgis et al. (1993) mapped another locus, termed GLUDP5, to 10p11.2. They pointed out that the work of their group (Michaelidis et al., 1993) raised the number of human GLUD loci to 6. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
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</h4>
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|
</div>
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<span class="mim-text-font">
|
|
<p>Michaelidis et al. (1993) determined that the GLUD1 gene is about 45 kb long and contains 13 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Biochemical Features</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>Hanauer et al. (1985) suggested that the GLUD clones they detected may be useful in study of the postulated relationship of partial glutamate dehydrogenase deficiency and a form of olivopontocerebellar atrophy (OPCA). Plaitakis et al. (1980, 1982, 1984) and Duvoisin et al. (1983) found partial deficiency of GLUD in fibroblasts and leukocytes of some patients with OPCA. Yamaguchi et al. (1982) and Sorbi et al. (1986) found a similar deficiency in platelets of OPCA patients. Barbeau et al. (1980) could find no abnormality of GLUD in 8 patients with a dominant form of OPCA. </p>
|
|
</span>
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<div>
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|
<br />
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>In 2 infants with hyperinsulinemic hypoglycemia and hyperammonemia (606762), Stanley et al. (1997) identified heterozygosity for activating mutations in the GLUD1 gene (138130.0001 and 138130.0002).</p><p>In a study of 4 sporadic and 2 familial cases, Stanley et al. (1998) identified 5 missense mutations that alter 1 of 4 amino acids between residues 446 and 454 in exons 11 and 12 of the GLUD1 gene (see, e.g., 138130.0003-138130.0005), a region that encodes the allosteric domain. All of these mutations were associated with a diminished inhibitory effect of guanosine triphosphate (GTP) on glutamate dehydrogenase activity. </p>
|
|
</span>
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|
<div>
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|
<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
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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>.0001 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
GLUD1, HIS454TYR
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|
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|
<br />
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|
|
|
SNP: rs121909730,
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|
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|
|
|
|
|
ClinVar: RCV000017501, RCV000760160
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with the syndrome of hypoglycemia due to congenital hyperinsulinism combined with persistent unexplained hyperammonemia (606762), Stanley et al. (1997) identified heterozygosity for a C-to-T transition at nucleotide 1519 in the GLUD1 gene, predicted to cause a his454-to-tyr (H454Y) substitution in the mature protein. The patient was a sporadic case. Also see 138130.0002.</p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
</div>
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|
<div>
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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, SER445LEU
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121909731,
|
|
|
|
|
|
gnomAD: rs121909731,
|
|
|
|
|
|
ClinVar: RCV000017502, RCV000185923
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with the syndrome of hypoglycemia due to congenital hyperinsulinism combined with persistent unexplained hyperammonemia (606762), Stanley et al. (1997) identified heterozygosity for a C-to-T transition at nucleotide 1493 in the GLUD1 gene, predicted to cause a ser445-to-leu (S448L) substitution in the mature GDH peptide. Both of the mutations reported by Stanley et al. (1997) (see 138130.0001) affected only 1 of the 2 GDH alleles and were not present in the parents, indicating that the disorder is autosomal dominant.</p><p>In 3 unrelated Japanese infants with congenital hyperinsulinism-hyperammonemia, Miki et al. (2000) identified heterozygosity for the S445L mutation in the allosteric domain of the GLUD1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, SER448PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909732,
|
|
|
|
|
|
|
|
ClinVar: RCV000017503, RCV004797764
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 separate families with hyperinsulinemic hypoglycemia and hyperammonemia (606762), one from Canada and the other from Italy, Stanley et al. (1998) identified heterozygosity for a C-to-T transition at nucleotide 1514, resulting in a ser448-to-pro (S448P) substitution. In each family, a mother and child were affected. This mutation results in less severe hypoglycemia than that seen in patients with a sporadic mutation. Basal enzyme activity was 38% of normal. </p><p>In family 2 studied by Thornton et al. (1998), Glaser et al. (1998) identified the S448P mutation in the GLUD1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, GLY446SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909733,
|
|
|
|
|
|
|
|
ClinVar: RCV000017504
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated individuals with hyperinsulinism-hyperammonemia syndrome (606762), Stanley et al. (1998) identified heterozygosity for a G-to-A transition at nucleotide 1508 of the GLUD1 gene, resulting in a gly446-to-ser (G446S) substitution at codon 446. This dominant mutation causes severe hypoglycemia and a 2- to 5-fold increase in plasma ammonium concentration due to decreased sensitivity to GTP-induced inhibition, which was demonstrated in the patients' lymphoblasts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, GLY446ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909734,
|
|
|
|
|
|
|
|
ClinVar: RCV000017505
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated individuals with the hyperinsulinism/hyperammonemia syndrome (606762), Stanley et al. (1998) identified heterozygosity for a G-to-A transition at nucleotide 1509 of the GLUD1 gene, resulting in a gly446-to-asp (G446D) substitution. This dominant mutation results in severe hypoglycemia and a 2- to 5-fold increase in plasma ammonium concentration due to decreased sensitivity to GTP-induced inhibition, which was demonstrated in the patients' lymphoblasts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, GLU296ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909735,
|
|
|
|
|
|
|
|
ClinVar: RCV000017506
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-month-old Japanese girl with hyperinsulinemic hypoglycemia and hyperammonemia (606762), Miki et al. (2000) identified heterozygosity for a 1059A-C transversion in exon 7 of the GLUD1 gene, resulting in a glu296-to-ala (E296A) substitution within the catalytic domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, ARG265LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909736,
|
|
|
|
|
|
|
|
ClinVar: RCV000017507
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-day-old Japanese boy with hyperinsulinemic hypoglycemia and hyperammonemia (606762), Miki et al. (2000) identified heterozygosity for a 966G-A transition in exon 7 of the GLUD1 gene, resulting in an arg265-to-lys (R265K) substitution within the catalytic domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, ARG221CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs56275071,
|
|
|
|
|
|
|
|
ClinVar: RCV000017508, RCV001818165
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected members of a 3-generation family with hyperinsulinemic hypoglycemia and hyperammonemia (606762), Santer et al. (2001) identified heterozygosity for an 833C-T transition in exon 6 of the GLUD1 gene, resulting in an arg221-to-cys (R221C) substitution within the catalytic domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLUD1, ARG269HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909737,
|
|
|
|
|
|
|
|
ClinVar: RCV000017509, RCV001091338
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 affected members of 6 unrelated families with hyperinsulinemic hypoglycemia and hyperammonemia (606762), Santer et al. (2001) identified heterozygosity for a 978G-A transition in exon 7 of the GLUD1 gene, resulting in an arg269-to-his (R269H) substitution within the catalytic domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Colon et al. (1986); Hanauer et al. (1987); Nelson et al. (1977)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Anagnou, N. P., Seuanez, H., Modi, W., O'Brien, S. J., Papmatheakis, J., Moschonas, N.
|
|
<strong>Chromosomal mapping of the human glutamate dehydrogenase (GLUD) genes to chromosomes 10q21.1-21.2 and Xq26-28. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A170 only, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barbeau, A., Charbonneau, M., Cloutier, T.
|
|
<strong>Leucocyte glutamate dehydrogenase in various hereditary ataxias.</strong>
|
|
Canad. J. Neurol. Sci. 7: 421-424, 1980.
|
|
|
|
|
|
[PubMed: 7214257]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1017/s031716710002299x]
|
|
|
|
|
|
</p>
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