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Entry
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- *150000 - LACTATE DEHYDROGENASE A; LDHA
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- OMIM
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</ul>
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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="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<div class="row">
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<p />
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</div>
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<!-- <div id="mimSearch"> -->
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<div id="mimContent">
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*150000</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>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/150000">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>
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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=ENSG00000134333;t=ENST00000422447" 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=3939" 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=150000" 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=ENSG00000134333;t=ENST00000422447" 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_001135239,NM_001165414,NM_001165415,NM_001165416,NM_005566,NR_028500" 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_005566" 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=150000" 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=01025&isoform_id=01025_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/LDHA" 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/34313,126047,780261,5031857,34527427,41350405,45501322,48145667,49456389,62897717,119588801,119588802,119588803,194382176,194383812,207028494,211947929,221042404,260099723,260099725,260099727" 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/P00338" 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=3939" 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=ENSG00000134333;t=ENST00000422447" 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=LDHA" 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=LDHA" 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+3939" 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/LDHA" 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:3939" 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/3939" 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=chr11&hgg_gene=ENST00000422447.8&hgg_start=18394563&hgg_end=18408425&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
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<span class="small">
|
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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://medlineplus.gov/genetics/gene/ldha" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=150000[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=150000[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134333" 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=LDHA" 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=LDHA" 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=LDHA" 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=LDHA&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/PA30319" 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:6535" 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/FBgn0001258.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:96759" 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/LDHA#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:96759" 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/3939/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=3939" 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=WBGene00002262;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-991026-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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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">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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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:3939" 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=LDHA&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
|
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</div>
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</div>
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</div>
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</div>
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<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
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<div>
|
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
|
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
150000
|
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</span>
|
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</span>
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</div>
|
|
</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
LACTATE DEHYDROGENASE A; LDHA
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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 />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LDH, SUBUNIT M
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LDHA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LDHA</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/223?start=-3&limit=10&highlight=223">11p15.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:18394563-18408425&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'})">11:18,394,563-18,408,425</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
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<a href="/entry/612933"> 612933 </a>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The LDHA gene encodes the A subunit of lactate dehydrogenase (<a href="https://enzyme.expasy.org/EC/1.1.1.27" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.1.1.27</a>), an enzyme that catalyzes the interconversion of lactate and pyruvate. The A subunit is expressed in skeletal muscle. Other isoforms include LDHB (<a href="/entry/150100">150100</a>), expressed in cardiac muscle, and LDHC (<a href="/entry/150150">150150</a>), expressed in testis (<a href="#33" class="mim-tip-reference" title="Tsujibo, H., Tiano, H. F., Li, S. S.-L. <strong>Nucleotide sequences of the cDNA and an intronless pseudogene for human lactate dehydrogenase-A isozyme.</strong> Europ. J. Biochem. 147: 9-15, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838278</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1985.tb08711.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838278">Tsujibo et al., 1985</a>; <a href="#6" class="mim-tip-reference" title="Chung, F.-Z., Tsujibo, H., Bhattacharyya, U., Sharief, F. S., Li, S. S.-L. <strong>Genomic organization of human lactate dehydrogenase-A gene.</strong> Biochem. J. 231: 537-541, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000353</a>] [<a href="https://doi.org/10.1042/bj2310537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3000353">Chung et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3838278+3000353" 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="#33" class="mim-tip-reference" title="Tsujibo, H., Tiano, H. F., Li, S. S.-L. <strong>Nucleotide sequences of the cDNA and an intronless pseudogene for human lactate dehydrogenase-A isozyme.</strong> Europ. J. Biochem. 147: 9-15, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838278</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1985.tb08711.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838278">Tsujibo et al. (1985)</a> isolated cDNA clones corresponding to the human LDHA gene from a human fibroblast cDNA library. The predicted 332-amino acid sequence had a molecular mass of 36.7 kD and showed 92% homology to the porcine Ldha polypeptide. A nonfunctional pseudogene was also isolated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3838278" 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="#6" class="mim-tip-reference" title="Chung, F.-Z., Tsujibo, H., Bhattacharyya, U., Sharief, F. S., Li, S. S.-L. <strong>Genomic organization of human lactate dehydrogenase-A gene.</strong> Biochem. J. 231: 537-541, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000353</a>] [<a href="https://doi.org/10.1042/bj2310537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3000353">Chung et al. (1985)</a> determined that the LDHA gene contains 7 exons and spans about 12 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000353" 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>Studies using human-mouse somatic cell hybrids indicated that the LDHA and LDHB loci are not linked (<a href="#26" class="mim-tip-reference" title="Nabholz, M., Miggiano, V., Bodmer, W. F. <strong>Genetic analysis with human-mouse somatic cell hybrids.</strong> Nature 223: 358-363, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4309885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4309885</a>] [<a href="https://doi.org/10.1038/223358a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4309885">Nabholz et al., 1969</a>). By study of cell hybrids, LDHA was assigned to the short arm of chromosome 11 by <a href="#9" class="mim-tip-reference" title="Francke, U., Busby, N. <strong>Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions.</strong> Birth Defects Orig. Art. Ser. XI(3): 143-149, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 313-319, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1203473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1203473</a>]" pmid="1203473">Francke and Busby (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4309885+1203473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By the study of cells from 4 persons with different interstitial deletions of 11p, <a href="#10" class="mim-tip-reference" title="Francke, U., George, D. L., Brown, M. G., Riccardi, V. M. <strong>Gene dose effect: intraband mapping of LDHA locus using cells from four individuals with different interstitial deletions of 11p.</strong> Cytogenet. Cell Genet. 19: 197-207, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/598250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">598250</a>] [<a href="https://doi.org/10.1159/000130809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="598250">Francke et al. (1977)</a> assigned the LDHA locus to 11p1203-11p1208. At HGM8, controversy arose over the mapping of LDHA (see <a href="#12" class="mim-tip-reference" title="Grzeschik, K.-H., Kazazian, H. H. <strong>Report of the committee on the genetic constitution of chromosomes 10, 11, and 12.</strong> Cytogenet. Cell Genet. 40: 179-205, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3864594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3864594</a>] [<a href="https://doi.org/10.1159/000132174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3864594">Grzeschik and Kazazian, 1985</a>). HGM8 reported the location as 11p14-p12. <a href="#13" class="mim-tip-reference" title="Lebo, R. V., Cheung, M. C., Bruce, B. D., Riccardi, V. M., Kao, F. T., Kan, Y. W. <strong>Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes.</strong> Hum. Genet. 69: 316-320, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2985490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2985490</a>] [<a href="https://doi.org/10.1007/BF00291648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2985490">Lebo et al. (1985)</a> and <a href="#14" class="mim-tip-reference" title="Lewis, W. H., Goguen, J. M., Powers, V. E., Willard, H. F., Michaloparilan, E. E. <strong>Gene order on the short arm of human chromosome 11: regional assignment of LDHA distal to catalase.</strong> Hum. Genet. 71: 249-253, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3877676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3877676</a>] [<a href="https://doi.org/10.1007/BF00284584" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3877676">Lewis et al. (1985)</a> placed the locus at a more distal position. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3864594+2985490+3877676+598250" 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="#37" class="mim-tip-reference" title="Yang-Feng, T. L., Bruns, G. A. P., Carroll, A. J., Simola, K. O. J., Francke, U. <strong>Localization of the LDHA gene to 11p14-11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13.</strong> Hum. Genet. 74: 331-334, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3793094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3793094</a>] [<a href="https://doi.org/10.1007/BF00280481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3793094">Yang-Feng et al. (1986)</a> did in situ hybridization studies in cell lines from 2 persons with apparently balanced translocations involving 11p13. Their findings excluded LDHA from any region proximal to 11p13 and localized the gene to 11p15-p14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3793094" 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="#29" class="mim-tip-reference" title="Scrable, H. J., Johnson, D. K., Rinchik, E. M., Cavenee, W. K. <strong>Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11.</strong> Proc. Nat. Acad. Sci. 87: 2182-2186, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2315312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2315312</a>] [<a href="https://doi.org/10.1073/pnas.87.6.2182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2315312">Scrable et al. (1990)</a> demonstrated that LDHA is located in band 11p15.4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2315312" 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>Centrosomal proteins (e.g., <a href="/entry/117139">117139</a>, <a href="/entry/117140">117140</a>, <a href="/entry/117141">117141</a>, <a href="/entry/117143">117143</a>) have been studied mainly with anticentrosome serum. Using a spontaneously arising rabbit anticentrosome serum with strong human specificity, <a href="#11" class="mim-tip-reference" title="Gosti, F., Marty, M.-C., Courvalin, J. C., Maunoury, R., Bornens, M. <strong>Centrosomal proteins and lactate dehydrogenase possess a common epitope in human cell lines.</strong> Proc. Nat. Acad. Sci. 84: 1000-1004, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2434947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2434947</a>] [<a href="https://doi.org/10.1073/pnas.84.4.1000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2434947">Gosti et al. (1987)</a> identified specific antigens in isolated centrosomes which reacted with several noncentrosomal proteins, notably, lactate dehydrogenase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2434947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anderson, G. R., Kovacik, W. P., Jr. <strong>LDH(k), an unusual oxygen-sensitive lactate dehydrogenase expressed in human cancer.</strong> Proc. Nat. Acad. Sci. 78: 3209-3213, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6942426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6942426</a>] [<a href="https://doi.org/10.1073/pnas.78.5.3209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6942426">Anderson and Kovacik (1981)</a> identified an unusual isozyme of lactate dehydrogenase, which they designated lactate dehydrogenase K (LDHK), in cells transformed by the Kirsten murine sarcoma virus. They examined 16 different human carcinomas and found that 11 had LDHK activity 10- to 500-fold over the level in adjoining nontumor tissue. <a href="#15" class="mim-tip-reference" title="Li, S. S.-L., Pan, Y.-C. E., Sharief, F. S., Evans, M. J., Lin, M.-F., Clinton, G. M., Holbrook, J. J. <strong>Cancer-associated lactate dehydrogenase is a tyrosylphosphorylated form of human LDH-A, skeletal muscle isoenzyme.</strong> Cancer Invest. 6: 93-101, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3365574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3365574</a>] [<a href="https://doi.org/10.3109/07357908809077032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3365574">Li et al. (1988)</a> determined that this cancer-associated lactate dehydrogenase is a tyrosylphosphorylated form of LDHA. The protein was found to be complexed with 21-kD, 30-kD, and 56-kD proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3365574+6942426" 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>Aerobic glycolysis is a metabolic hallmark of activated T cells and has been implicated in augmenting effector T-cell responses, including expression of interferon-gamma (IFNG; <a href="/entry/147570">147570</a>), via 3-prime UTR-mediated mechanisms. <a href="#28" class="mim-tip-reference" title="Peng, M., Yin, N., Chhangawala, S., Xu, K., Leslie, C. S., Li, M. O. <strong>Aerobic glycolysis promotes T helper 1 cell differentiation through an epigenetic mechanism.</strong> Science 354: 481-484, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27708054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27708054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27708054[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/10.1126/science.aaf6284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27708054">Peng et al. (2016)</a> found that Ldha, but not Ldhb, was induced upon activation of mouse T cells. Deletion of Ldha specifically in mouse Cd4 (<a href="/entry/186940">186940</a>)-positive T cells resulted in little to no lactate production, indicating a loss of aerobic glycolysis, in naive and activated T cells. Ldha deficiency did not affect development in thymus, but it led to diminished Ifng production. Ifng production depended on Ldha maintaining high concentrations of acetyl coenzyme A to enhance histone acetylation and transcription of Ifng, independently of its 3-prime UTR. Ldha ablation in T cells protected mice from immunopathology triggered by excess Ifng expression or by deficiency of regulatory T cells. <a href="#28" class="mim-tip-reference" title="Peng, M., Yin, N., Chhangawala, S., Xu, K., Leslie, C. S., Li, M. O. <strong>Aerobic glycolysis promotes T helper 1 cell differentiation through an epigenetic mechanism.</strong> Science 354: 481-484, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27708054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27708054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27708054[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/10.1126/science.aaf6284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27708054">Peng et al. (2016)</a> concluded that aerobic glycolysis promotes effector T-cell differentiation via an epigenetic rather than a translational mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27708054" 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="#27" class="mim-tip-reference" title="Nance, W. E., Claflin, A., Smithies, O. <strong>Lactic dehydrogenase: genetic control in man.</strong> Science 142: 1075-1077, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14068226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14068226</a>] [<a href="https://doi.org/10.1126/science.142.3595.1075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14068226">Nance et al. (1963)</a> observed a genetically determined variant LDH in the red cells of 4 members of 2 generations of a Brazilian family. The mutation involved the A subunit. This was the first instance in which practical considerations permitted demonstration of the variant in multiple relatives. Unlike the findings of <a href="#30" class="mim-tip-reference" title="Shaw, C. R., Barto, E. <strong>Genetic evidence for the subunit structure of lactate dehydrogenase isozymes.</strong> Proc. Nat. Acad. Sci. 50: 211-214, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14060636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14060636</a>] [<a href="https://doi.org/10.1073/pnas.50.2.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14060636">Shaw and Barto (1963)</a> in Peromyscus and of <a href="#4" class="mim-tip-reference" title="Boyer, S. H., Fainer, D. C., Watson-Williams, E. J. <strong>Lactate dehydrogenase variant from human blood: evidence for molecular subunits.</strong> Science 141: 642-643, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14014718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14014718</a>] [<a href="https://doi.org/10.1126/science.141.3581.642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14014718">Boyer et al. (1963)</a> in man, the findings in the Brazilian family did not suggest random association between the products of the mutant and wildtype alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14068226+14060636+14014718" 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>LDH variants, involving either the A or the B subunit, seem to be unusually frequent in India (<a href="#7" class="mim-tip-reference" title="Das, S. R., Mukherjee, B. N., Das, S. K., Ananthakrishnan, R., Blake, N. M., Kirk, R. L. <strong>LDH variants in India.</strong> Humangenetik 9: 107-109, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5488992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5488992</a>] [<a href="https://doi.org/10.1007/BF00696021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5488992">Das et al., 1970</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5488992" 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>Glycogen Storage Disease XI</em></strong></p><p>
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In a patient with LDHA deficiency, or glycogen storage disease XI (GSD11; <a href="/entry/612933">612933</a>), reported by <a href="#18" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Kanno, T. <strong>Immunochemical studies on lactate dehydrogenase A subunit deficiencies.</strong> Am. J. Hum. Genet. 39: 232-238, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3092644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3092644</a>]" pmid="3092644">Maekawa et al. (1986)</a>, <a href="#17" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Kanno, T., Li, S. S.-L. <strong>Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.</strong> Biochem. Biophys. Res. Commun. 168: 677-682, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2334430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2334430</a>] [<a href="https://doi.org/10.1016/0006-291x(90)92374-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2334430">Maekawa et al. (1990)</a> found homozygosity for a 20-bp deletion in exon 6 of the LDHA gene (<a href="#0001">150000.0001</a>). <a href="#19" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Li, S. S.-L., Kanno, T. <strong>Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining.</strong> Biochem. Biophys. Res. Commun. 180: 1083-1090, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1953713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1953713</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81177-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1953713">Maekawa et al. (1991)</a> demonstrated the same mutation in 18 persons from the 4 known affected families in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1953713+2334430+3092644" 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="#21" class="mim-tip-reference" title="Markert, C. L., Shaklee, J. B., Whitt, G. S. <strong>Evolution of a gene: multiple genes for LDH isozymes provide a model of the evolution of gene structure, function, and regulation.</strong> Science 189: 102-114, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1138367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1138367</a>] [<a href="https://doi.org/10.1126/science.1138367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1138367">Markert et al. (1975)</a> suggested that the ancestral vertebrate LDH was an A4-like enzyme since lampreys have only the A4 isozyme. <a href="#32" class="mim-tip-reference" title="Sidell, B. D., Beland, K. F. <strong>Lactate dehydrogenases of Atlantic hagfish: physiological and evolutionary implications of a primitive heart isozyme.</strong> Science 207: 769-770, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7352286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7352286</a>] [<a href="https://doi.org/10.1126/science.7352286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7352286">Sidell and Beland (1980)</a> presented evidence supporting this view: the hagfish has a B4 enzyme but it diverges less from A4 enzyme than does the B4 of other fishes and higher vertebrates. A close phylogenic relative of the lamprey, the Atlantic hagfish lives under sustained hypoxic conditions that may have favored evolution of a B4 enzyme. A4 is the muscle isozyme, B4 is the heart isozyme, and C4 is the testicular isozyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1138367+7352286" 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="#24" class="mim-tip-reference" title="Morizot, D. C. <strong>Tracing linkage groups from fishes to mammals. (Abstract)</strong> Cytogenet. Cell Genet. 37: 543 only, 1984."None>Morizot (1984)</a> collated linkage data from lower vertebrates and several mammalian species. The lower vertebrates included poeciliid fishes (Xiphophorus and Poeciliopsis), salmonid fishes (trout), and frogs (Rana). He postulated a 12-locus ancestral synteny group consisting of isocitrate dehydrogenase (on human 2 and 15), 3 LDH loci (on human 11 and 12), HEXA (on human 15), nucleoside phosphorylase (on human 14), pyruvate kinase (on human 15), MPI (on human 15), PEPB (on human 12), citrate synthase (on human 12), TPI (on human 12), and glyceraldehyde-3-phosphate dehydrogenase (on human 12). If the 3 LDH loci are part of the primordial synteny group, LDH genes may have originated by intrachromosomal duplication rather than by polyploidization as has been thought.</p>
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<p>In trout, the loci coding for LDH subunits A and B are linked (<a href="#25" class="mim-tip-reference" title="Morrison, W. J., Wright, J. E. <strong>Genetic analysis of three lactate dehydrogenase isozyme systems in trout: evidence for linkage of genes coding subunits A and B.</strong> J. Exp. Zool. 163: 259-270, 1966."None>Morrison and Wright, 1966</a>). In the mouse, <a href="#5" class="mim-tip-reference" title="Chang, S.-M. T., Lee, C.-Y., Li, S. S.-L. <strong>Structural relatedness of mouse lactate dehydrogenase isozymes, A4 (muscle), B4 (heart), and C4 (testis).</strong> Biochem. Genet. 17: 715-729, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/540015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">540015</a>] [<a href="https://doi.org/10.1007/BF00502130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="540015">Chang et al. (1979)</a> found that the A and B subunits are more similar to each other in amino acid sequence than to the C subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=540015" 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 the mouse, <a href="#22" class="mim-tip-reference" title="Merkle, S., Favor, J., Graw, J., Hornhardt, S., Pretsch, W. <strong>Hereditary lactate dehydrogenase A-subunit deficiency as cause of early postimplantation death of homozygotes in Mus musculus.</strong> Genetics 131: 413-421, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1644279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1644279</a>] [<a href="https://doi.org/10.1093/genetics/131.2.413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1644279">Merkle et al. (1992)</a> found that homozygosity for absent LDHA subunit led to early postimplantation death. <a href="#22" class="mim-tip-reference" title="Merkle, S., Favor, J., Graw, J., Hornhardt, S., Pretsch, W. <strong>Hereditary lactate dehydrogenase A-subunit deficiency as cause of early postimplantation death of homozygotes in Mus musculus.</strong> Genetics 131: 413-421, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1644279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1644279</a>] [<a href="https://doi.org/10.1093/genetics/131.2.413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1644279">Merkle et al. (1992)</a> suggested that the fact that human subjects with a complete absence of LDHA subunits are fully viable may be due to the fact that, in contrast with the situation in the mouse, LDHB predominates in the human fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1644279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with lactate dehydrogenase A deficiency, or glycogen storage disease XI (GSD11; <a href="/entry/612933">612933</a>), reported by <a href="#18" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Kanno, T. <strong>Immunochemical studies on lactate dehydrogenase A subunit deficiencies.</strong> Am. J. Hum. Genet. 39: 232-238, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3092644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3092644</a>]" pmid="3092644">Maekawa et al. (1986)</a>, <a href="#17" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Kanno, T., Li, S. S.-L. <strong>Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.</strong> Biochem. Biophys. Res. Commun. 168: 677-682, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2334430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2334430</a>] [<a href="https://doi.org/10.1016/0006-291x(90)92374-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2334430">Maekawa et al. (1990)</a> found a 20-bp deletion in exon 6 of the LDHA gene, resulting in a frameshift, premature termination, and complete lack of the alpha subunits of LDH. The predicted incomplete LDHA subunit contained only 259 instead of 331 amino acids and appeared to be degraded rapidly, since no protein was detected immunologically. <a href="#17" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Kanno, T., Li, S. S.-L. <strong>Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.</strong> Biochem. Biophys. Res. Commun. 168: 677-682, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2334430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2334430</a>] [<a href="https://doi.org/10.1016/0006-291x(90)92374-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2334430">Maekawa et al. (1990)</a> stated that 'this female patient with the LDHA deficiency frequently complained of uterine stiffness during her pregnancy. Uterine stiffness was a problem in the early stage of delivery and, thus, she required a Caesarean section.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2334430+3092644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a fragment of the LDHA gene amplified by PCR using 2 primers specific for the gene, <a href="#19" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Li, S. S.-L., Kanno, T. <strong>Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining.</strong> Biochem. Biophys. Res. Commun. 180: 1083-1090, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1953713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1953713</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81177-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1953713">Maekawa et al. (1991)</a> demonstrated the same mutation in 18 persons from the 4 known affected families in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1953713" 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="#23" class="mim-tip-reference" title="Miyajima, H., Takahashi, Y., Suzuki, M., Shimizu, T., Kaneko, E. <strong>Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency.</strong> Neurology 43: 1414-1419, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8327147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8327147</a>] [<a href="https://doi.org/10.1212/wnl.43.7.1414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8327147">Miyajima et al. (1993)</a> identified the exon 6 deletion in 2 adult Japanese sisters who had muscle stiffness following strenuous exercise since the teens and age 9, respectively. Both had had cesarean sections because the 'uterus was too stiff in the early stage of delivery.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8327147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912479 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912479;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=rs121912479" 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=rs121912479" 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=RCV000015668" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015668" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015668</a>
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<p>This variant, formerly titled GLYCOGEN STORAGE DISEASE XI, has been reclassified as a variant of unknown significance because its association with the disorder has not been confirmed.</p><p><a href="#20" class="mim-tip-reference" title="Maekawa, M., Sudo, K., Li, S. S.-L., Kanno, T. <strong>Genotypic analysis of families with lactate dehydrogenase A(M) deficiency by selective DNA amplification.</strong> Hum. Genet. 88: 34-38, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1959923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1959923</a>] [<a href="https://doi.org/10.1007/BF00204925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1959923">Maekawa et al. (1991)</a> used the ratio of LDHB to LDHA subunits in erythrocytes as a means of identifying individuals heterozygous for LDHA deficiency (GSD11; <a href="/entry/612933">612933</a>). In one such individual, they identified a G-to-T transversion in the LDHA gene, resulting in a glu328-to-ter (E328X) substitution. There were no manifestations in this heterozygous subject; however, homozygotes would presumably be affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1959923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Blake1969" class="mim-tip-reference" title="Blake, N. M., Kirk, R. L., Pryke, E., Sinnett, P. <strong>Lactate dehydrogenase electrophoretic variant in a New Guinea highland population.</strong> Science 163: 701-702, 1969.">Blake et al. (1969)</a>; <a href="#Boone1972" class="mim-tip-reference" title="Boone, C. M., Chen, T. R., Ruddle, F. H. <strong>Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids.</strong> Proc. Nat. Acad. Sci. 69: 510-514, 1972.">Boone et al. (1972)</a>; <a href="#Davidson1965" class="mim-tip-reference" title="Davidson, R. G., Fildes, R. A., Glen-Bott, A. M., Harris, H., Robson, E. B., Cleghorn, T. E. <strong>Genetical studies on a variant of human lactate dehydrogenase (subunit A).</strong> Ann. Hum. Genet. 29: 5-17, 1965.">Davidson et al. (1965)</a>; <a href="#Maekawa1984" class="mim-tip-reference" title="Maekawa, M., Kanda, S., Sudo, K., Kanno, T. <strong>Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies.</strong> Am. J. Hum. Genet. 36: 1204-1214, 1984.">Maekawa et al. (1984)</a>; <a href="#Shows1972" class="mim-tip-reference" title="Shows, T. B. <strong>Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A4.</strong> Proc. Nat. Acad. Sci. 69: 348-352, 1972.">Shows (1972)</a>; <a href="#Van1972" class="mim-tip-reference" title="Van Someren, H., Meera Khan, P., Westerveld, A., Bootsma, D. <strong>Two new linkage groups carrying different loci for LDH and glutamic-pyruvic transaminase found.</strong> Nature N.B. 240: 221-222, 1972.">Van Someren et al. (1972)</a>; <a href="#Vesell1965" class="mim-tip-reference" title="Vesell, E. S. <strong>Genetic control of isozyme patterns in human tissue.</strong> Prog. Med. Genet. 4: 128-175, 1965.">Vesell (1965)</a>; <a href="#Vyas1977" class="mim-tip-reference" title="Vyas, G. N., Peterson, D. L., Townsend, R. M. <strong>Hepatitis B 'e' antigens: an apparent association with lactate dehydrogenase isozyme-5.</strong> Science 198: 1068-1070, 1977.">Vyas et al. (1977)</a>
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Anderson, G. R., Kovacik, W. P., Jr.
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<strong>LDH(k), an unusual oxygen-sensitive lactate dehydrogenase expressed in human cancer.</strong>
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Proc. Nat. Acad. Sci. 78: 3209-3213, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6942426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6942426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6942426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.78.5.3209" target="_blank">Full Text</a>]
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Blake, N. M., Kirk, R. L., Pryke, E., Sinnett, P.
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<strong>Lactate dehydrogenase electrophoretic variant in a New Guinea highland population.</strong>
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Science 163: 701-702, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5762937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5762937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5762937" 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.163.3868.701" target="_blank">Full Text</a>]
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Boone, C. M., Chen, T. R., Ruddle, F. H.
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<strong>Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids.</strong>
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Proc. Nat. Acad. Sci. 69: 510-514, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4110482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4110482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4110482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Boyer, S. H., Fainer, D. C., Watson-Williams, E. J.
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<strong>Lactate dehydrogenase variant from human blood: evidence for molecular subunits.</strong>
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Science 141: 642-643, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14014718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14014718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14014718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chang, S.-M. T., Lee, C.-Y., Li, S. S.-L.
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<strong>Structural relatedness of mouse lactate dehydrogenase isozymes, A4 (muscle), B4 (heart), and C4 (testis).</strong>
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Biochem. Genet. 17: 715-729, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/540015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">540015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=540015" 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/BF00502130" target="_blank">Full Text</a>]
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Chung, F.-Z., Tsujibo, H., Bhattacharyya, U., Sharief, F. S., Li, S. S.-L.
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<strong>Genomic organization of human lactate dehydrogenase-A gene.</strong>
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Biochem. J. 231: 537-541, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>LDH variants in India.</strong>
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Humangenetik 9: 107-109, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5488992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5488992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5488992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Davidson, R. G., Fildes, R. A., Glen-Bott, A. M., Harris, H., Robson, E. B., Cleghorn, T. E.
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<strong>Genetical studies on a variant of human lactate dehydrogenase (subunit A).</strong>
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Ann. Hum. Genet. 29: 5-17, 1965.
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[<a href="https://doi.org/10.1159/000130809" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.84.4.1000" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000132174" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291648" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00284584" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/07357908809077032" target="_blank">Full Text</a>]
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Peng, M., Yin, N., Chhangawala, S., Xu, K., Leslie, C. S., Li, M. O.
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<strong>Aerobic glycolysis promotes T helper 1 cell differentiation through an epigenetic mechanism.</strong>
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Science 354: 481-484, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27708054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27708054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27708054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27708054" 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.aaf6284" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Scrable1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scrable, H. J., Johnson, D. K., Rinchik, E. M., Cavenee, W. K.
|
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<strong>Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2315312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2315312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2315312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.6.2182" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Shaw1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shaw, C. R., Barto, E.
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<strong>Genetic evidence for the subunit structure of lactate dehydrogenase isozymes.</strong>
|
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Proc. Nat. Acad. Sci. 50: 211-214, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14060636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14060636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14060636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.50.2.211" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Shows1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shows, T. B.
|
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<strong>Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A4.</strong>
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Proc. Nat. Acad. Sci. 69: 348-352, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4501118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4501118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4501118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.69.2.348" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Sidell1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sidell, B. D., Beland, K. F.
|
|
<strong>Lactate dehydrogenases of Atlantic hagfish: physiological and evolutionary implications of a primitive heart isozyme.</strong>
|
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Science 207: 769-770, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7352286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7352286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7352286" 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.7352286" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Tsujibo1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Tsujibo, H., Tiano, H. F., Li, S. S.-L.
|
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<strong>Nucleotide sequences of the cDNA and an intronless pseudogene for human lactate dehydrogenase-A isozyme.</strong>
|
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Europ. J. Biochem. 147: 9-15, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3838278" 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.1432-1033.1985.tb08711.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Van Someren1972" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Van Someren, H., Meera Khan, P., Westerveld, A., Bootsma, D.
|
|
<strong>Two new linkage groups carrying different loci for LDH and glutamic-pyruvic transaminase found.</strong>
|
|
Nature N.B. 240: 221-222, 1972.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4509147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4509147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4509147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/newbio240221a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Vesell1965" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Vesell, E. S.
|
|
<strong>Genetic control of isozyme patterns in human tissue.</strong>
|
|
Prog. Med. Genet. 4: 128-175, 1965.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5319115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5319115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5319115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Vyas1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vyas, G. N., Peterson, D. L., Townsend, R. M.
|
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<strong>Hepatitis B 'e' antigens: an apparent association with lactate dehydrogenase isozyme-5.</strong>
|
|
Science 198: 1068-1070, 1977.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/73221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">73221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=73221" 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.73221" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Yang-Feng1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Yang-Feng, T. L., Bruns, G. A. P., Carroll, A. J., Simola, K. O. J., Francke, U.
|
|
<strong>Localization of the LDHA gene to 11p14-11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13.</strong>
|
|
Hum. Genet. 74: 331-334, 1986.
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|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3793094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3793094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3793094" 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/BF00280481" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Paul J. Converse - updated : 12/16/2016
|
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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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Carol A. Bocchini - updated : 7/27/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/24/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
alopez : 07/21/2023<br>mgross : 12/16/2016<br>carol : 09/10/2014<br>mcolton : 5/1/2014<br>terry : 8/1/2011<br>carol : 7/27/2011<br>terry : 8/3/2010<br>carol : 7/31/2009<br>carol : 7/30/2009<br>ckniffin : 7/28/2009<br>mgross : 3/17/2004<br>mcapotos : 12/15/1999<br>mcapotos : 12/15/1999<br>mark : 1/12/1998<br>alopez : 6/2/1997<br>terry : 7/15/1994<br>davew : 7/13/1994<br>warfield : 4/21/1994<br>pfoster : 4/5/1994<br>carol : 3/14/1994<br>carol : 7/23/1992
|
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 150000
|
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</span>
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</h3>
|
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</div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
LACTATE DEHYDROGENASE A; LDHA
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
LDH, SUBUNIT M
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: LDHA</em></strong>
|
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</span>
|
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: 11p15.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 11:18,394,563-18,408,425 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
11p15.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease XI
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612933
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The LDHA gene encodes the A subunit of lactate dehydrogenase (EC 1.1.1.27), an enzyme that catalyzes the interconversion of lactate and pyruvate. The A subunit is expressed in skeletal muscle. Other isoforms include LDHB (150100), expressed in cardiac muscle, and LDHC (150150), expressed in testis (Tsujibo et al., 1985; Chung et al., 1985). </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>Tsujibo et al. (1985) isolated cDNA clones corresponding to the human LDHA gene from a human fibroblast cDNA library. The predicted 332-amino acid sequence had a molecular mass of 36.7 kD and showed 92% homology to the porcine Ldha polypeptide. A nonfunctional pseudogene was also isolated. </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 Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chung et al. (1985) determined that the LDHA gene contains 7 exons and spans about 12 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Studies using human-mouse somatic cell hybrids indicated that the LDHA and LDHB loci are not linked (Nabholz et al., 1969). By study of cell hybrids, LDHA was assigned to the short arm of chromosome 11 by Francke and Busby (1975). </p><p>By the study of cells from 4 persons with different interstitial deletions of 11p, Francke et al. (1977) assigned the LDHA locus to 11p1203-11p1208. At HGM8, controversy arose over the mapping of LDHA (see Grzeschik and Kazazian, 1985). HGM8 reported the location as 11p14-p12. Lebo et al. (1985) and Lewis et al. (1985) placed the locus at a more distal position. </p><p>Yang-Feng et al. (1986) did in situ hybridization studies in cell lines from 2 persons with apparently balanced translocations involving 11p13. Their findings excluded LDHA from any region proximal to 11p13 and localized the gene to 11p15-p14. </p><p>Scrable et al. (1990) demonstrated that LDHA is located in band 11p15.4. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Centrosomal proteins (e.g., 117139, 117140, 117141, 117143) have been studied mainly with anticentrosome serum. Using a spontaneously arising rabbit anticentrosome serum with strong human specificity, Gosti et al. (1987) identified specific antigens in isolated centrosomes which reacted with several noncentrosomal proteins, notably, lactate dehydrogenase. </p><p>Anderson and Kovacik (1981) identified an unusual isozyme of lactate dehydrogenase, which they designated lactate dehydrogenase K (LDHK), in cells transformed by the Kirsten murine sarcoma virus. They examined 16 different human carcinomas and found that 11 had LDHK activity 10- to 500-fold over the level in adjoining nontumor tissue. Li et al. (1988) determined that this cancer-associated lactate dehydrogenase is a tyrosylphosphorylated form of LDHA. The protein was found to be complexed with 21-kD, 30-kD, and 56-kD proteins. </p><p>Aerobic glycolysis is a metabolic hallmark of activated T cells and has been implicated in augmenting effector T-cell responses, including expression of interferon-gamma (IFNG; 147570), via 3-prime UTR-mediated mechanisms. Peng et al. (2016) found that Ldha, but not Ldhb, was induced upon activation of mouse T cells. Deletion of Ldha specifically in mouse Cd4 (186940)-positive T cells resulted in little to no lactate production, indicating a loss of aerobic glycolysis, in naive and activated T cells. Ldha deficiency did not affect development in thymus, but it led to diminished Ifng production. Ifng production depended on Ldha maintaining high concentrations of acetyl coenzyme A to enhance histone acetylation and transcription of Ifng, independently of its 3-prime UTR. Ldha ablation in T cells protected mice from immunopathology triggered by excess Ifng expression or by deficiency of regulatory T cells. Peng et al. (2016) concluded that aerobic glycolysis promotes effector T-cell differentiation via an epigenetic rather than a translational mechanism. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nance et al. (1963) observed a genetically determined variant LDH in the red cells of 4 members of 2 generations of a Brazilian family. The mutation involved the A subunit. This was the first instance in which practical considerations permitted demonstration of the variant in multiple relatives. Unlike the findings of Shaw and Barto (1963) in Peromyscus and of Boyer et al. (1963) in man, the findings in the Brazilian family did not suggest random association between the products of the mutant and wildtype alleles. </p><p>LDH variants, involving either the A or the B subunit, seem to be unusually frequent in India (Das et al., 1970). </p><p><strong><em>Glycogen Storage Disease XI</em></strong></p><p>
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In a patient with LDHA deficiency, or glycogen storage disease XI (GSD11; 612933), reported by Maekawa et al. (1986), Maekawa et al. (1990) found homozygosity for a 20-bp deletion in exon 6 of the LDHA gene (150000.0001). Maekawa et al. (1991) demonstrated the same mutation in 18 persons from the 4 known affected families in Japan. </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>Evolution</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>Markert et al. (1975) suggested that the ancestral vertebrate LDH was an A4-like enzyme since lampreys have only the A4 isozyme. Sidell and Beland (1980) presented evidence supporting this view: the hagfish has a B4 enzyme but it diverges less from A4 enzyme than does the B4 of other fishes and higher vertebrates. A close phylogenic relative of the lamprey, the Atlantic hagfish lives under sustained hypoxic conditions that may have favored evolution of a B4 enzyme. A4 is the muscle isozyme, B4 is the heart isozyme, and C4 is the testicular isozyme. </p><p>Morizot (1984) collated linkage data from lower vertebrates and several mammalian species. The lower vertebrates included poeciliid fishes (Xiphophorus and Poeciliopsis), salmonid fishes (trout), and frogs (Rana). He postulated a 12-locus ancestral synteny group consisting of isocitrate dehydrogenase (on human 2 and 15), 3 LDH loci (on human 11 and 12), HEXA (on human 15), nucleoside phosphorylase (on human 14), pyruvate kinase (on human 15), MPI (on human 15), PEPB (on human 12), citrate synthase (on human 12), TPI (on human 12), and glyceraldehyde-3-phosphate dehydrogenase (on human 12). If the 3 LDH loci are part of the primordial synteny group, LDH genes may have originated by intrachromosomal duplication rather than by polyploidization as has been thought.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In trout, the loci coding for LDH subunits A and B are linked (Morrison and Wright, 1966). In the mouse, Chang et al. (1979) found that the A and B subunits are more similar to each other in amino acid sequence than to the C subunit. </p><p>In the mouse, Merkle et al. (1992) found that homozygosity for absent LDHA subunit led to early postimplantation death. Merkle et al. (1992) suggested that the fact that human subjects with a complete absence of LDHA subunits are fully viable may be due to the fact that, in contrast with the situation in the mouse, LDHB predominates in the human fetus. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>2 Selected Examples):</strong>
|
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE XI</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LDHA, 20-BP DEL, EX6
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<br />
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ClinVar: RCV000015667
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with lactate dehydrogenase A deficiency, or glycogen storage disease XI (GSD11; 612933), reported by Maekawa et al. (1986), Maekawa et al. (1990) found a 20-bp deletion in exon 6 of the LDHA gene, resulting in a frameshift, premature termination, and complete lack of the alpha subunits of LDH. The predicted incomplete LDHA subunit contained only 259 instead of 331 amino acids and appeared to be degraded rapidly, since no protein was detected immunologically. Maekawa et al. (1990) stated that 'this female patient with the LDHA deficiency frequently complained of uterine stiffness during her pregnancy. Uterine stiffness was a problem in the early stage of delivery and, thus, she required a Caesarean section.' </p><p>In a fragment of the LDHA gene amplified by PCR using 2 primers specific for the gene, Maekawa et al. (1991) demonstrated the same mutation in 18 persons from the 4 known affected families in Japan. </p><p>Miyajima et al. (1993) identified the exon 6 deletion in 2 adult Japanese sisters who had muscle stiffness following strenuous exercise since the teens and age 9, respectively. Both had had cesarean sections because the 'uterus was too stiff in the early stage of delivery.' </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LDHA, GLU328TER
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<br />
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|
|
SNP: rs121912479,
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|
|
ClinVar: RCV000015668
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>This variant, formerly titled GLYCOGEN STORAGE DISEASE XI, has been reclassified as a variant of unknown significance because its association with the disorder has not been confirmed.</p><p>Maekawa et al. (1991) used the ratio of LDHB to LDHA subunits in erythrocytes as a means of identifying individuals heterozygous for LDHA deficiency (GSD11; 612933). In one such individual, they identified a G-to-T transversion in the LDHA gene, resulting in a glu328-to-ter (E328X) substitution. There were no manifestations in this heterozygous subject; however, homozygotes would presumably be affected. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Blake et al. (1969); Boone et al. (1972); Davidson et al. (1965);
|
|
Maekawa et al. (1984); Shows (1972); Van Someren et al. (1972);
|
|
Vesell (1965); Vyas et al. (1977)
|
|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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</span>
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Anderson, G. R., Kovacik, W. P., Jr.
|
|
<strong>LDH(k), an unusual oxygen-sensitive lactate dehydrogenase expressed in human cancer.</strong>
|
|
Proc. Nat. Acad. Sci. 78: 3209-3213, 1981.
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[PubMed: 6942426]
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[Full Text: https://doi.org/10.1073/pnas.78.5.3209]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Blake, N. M., Kirk, R. L., Pryke, E., Sinnett, P.
|
|
<strong>Lactate dehydrogenase electrophoretic variant in a New Guinea highland population.</strong>
|
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Science 163: 701-702, 1969.
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[PubMed: 5762937]
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[Full Text: https://doi.org/10.1126/science.163.3868.701]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Boone, C. M., Chen, T. R., Ruddle, F. H.
|
|
<strong>Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids.</strong>
|
|
Proc. Nat. Acad. Sci. 69: 510-514, 1972.
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[PubMed: 4110482]
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[Full Text: https://doi.org/10.1073/pnas.69.2.510]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Boyer, S. H., Fainer, D. C., Watson-Williams, E. J.
|
|
<strong>Lactate dehydrogenase variant from human blood: evidence for molecular subunits.</strong>
|
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Science 141: 642-643, 1963.
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[PubMed: 14014718]
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[Full Text: https://doi.org/10.1126/science.141.3581.642]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chang, S.-M. T., Lee, C.-Y., Li, S. S.-L.
|
|
<strong>Structural relatedness of mouse lactate dehydrogenase isozymes, A4 (muscle), B4 (heart), and C4 (testis).</strong>
|
|
Biochem. Genet. 17: 715-729, 1979.
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[PubMed: 540015]
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[Full Text: https://doi.org/10.1007/BF00502130]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chung, F.-Z., Tsujibo, H., Bhattacharyya, U., Sharief, F. S., Li, S. S.-L.
|
|
<strong>Genomic organization of human lactate dehydrogenase-A gene.</strong>
|
|
Biochem. J. 231: 537-541, 1985.
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[PubMed: 3000353]
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[Full Text: https://doi.org/10.1042/bj2310537]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Das, S. R., Mukherjee, B. N., Das, S. K., Ananthakrishnan, R., Blake, N. M., Kirk, R. L.
|
|
<strong>LDH variants in India.</strong>
|
|
Humangenetik 9: 107-109, 1970.
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[PubMed: 5488992]
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[Full Text: https://doi.org/10.1007/BF00696021]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Davidson, R. G., Fildes, R. A., Glen-Bott, A. M., Harris, H., Robson, E. B., Cleghorn, T. E.
|
|
<strong>Genetical studies on a variant of human lactate dehydrogenase (subunit A).</strong>
|
|
Ann. Hum. Genet. 29: 5-17, 1965.
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Francke, U., Busby, N.
|
|
<strong>Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(3): 143-149, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 313-319, 1975.
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[PubMed: 1203473]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Francke, U., George, D. L., Brown, M. G., Riccardi, V. M.
|
|
<strong>Gene dose effect: intraband mapping of LDHA locus using cells from four individuals with different interstitial deletions of 11p.</strong>
|
|
Cytogenet. Cell Genet. 19: 197-207, 1977.
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|
[PubMed: 598250]
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[Full Text: https://doi.org/10.1159/000130809]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gosti, F., Marty, M.-C., Courvalin, J. C., Maunoury, R., Bornens, M.
|
|
<strong>Centrosomal proteins and lactate dehydrogenase possess a common epitope in human cell lines.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 1000-1004, 1987.
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|
[PubMed: 2434947]
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[Full Text: https://doi.org/10.1073/pnas.84.4.1000]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Grzeschik, K.-H., Kazazian, H. H.
|
|
<strong>Report of the committee on the genetic constitution of chromosomes 10, 11, and 12.</strong>
|
|
Cytogenet. Cell Genet. 40: 179-205, 1985.
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|
[PubMed: 3864594]
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[Full Text: https://doi.org/10.1159/000132174]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lebo, R. V., Cheung, M. C., Bruce, B. D., Riccardi, V. M., Kao, F. T., Kan, Y. W.
|
|
<strong>Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes.</strong>
|
|
Hum. Genet. 69: 316-320, 1985.
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|
[PubMed: 2985490]
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[Full Text: https://doi.org/10.1007/BF00291648]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lewis, W. H., Goguen, J. M., Powers, V. E., Willard, H. F., Michaloparilan, E. E.
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