3484 lines
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- *602413 - SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C; SDHC
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*602413</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602413">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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=ENSG00000143252;t=ENST00000367975" 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=6391" 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=602413" 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 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=ENSG00000143252;t=ENST00000367975" 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_001035511,NM_001035512,NM_001035513,NM_001278172,NM_001407115,NM_001407116,NM_001407117,NM_001407118,NM_001407119,NM_001407120,NM_001407121,NM_003001,NR_103459" 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_003001" 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=602413" 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=03878&isoform_id=03878_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/SDHC" 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/1814226,3366669,3370989,4506863,5915811,18088742,21708000,42542834,48146321,78096637,78096639,78096641,78096643,78711820,78711822,78711824,119572982,119572983,119572984,119572985,119572986,119572987,119572988,119572989,194374461,194376880,498917305,957950164,957950167,957950170,957950173,2244986501,2245367881,2245367883,2245367895,2245367940,2245367971,2245368008" 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/Q99643" 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=6391" 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=ENSG00000143252;t=ENST00000367975" 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=SDHC" 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=SDHC" 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+6391" 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/SDHC" 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:6391" 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/6391" 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=chr1&hgg_gene=ENST00000367975.7&hgg_start=161314381&hgg_end=161363206&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10682" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10682" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602413[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=602413[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/ENSG00000143252" 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=SDHC" 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=SDHC" 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=SDHC" 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="http://www.LOVD.nl/SDHC" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SDHC&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/PA35607" 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:10682" 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/FBgn0037860.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:1913302" 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/SDHC#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:1913302" 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/6391/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=6391" 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=WBGene00003225;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-040801-26" 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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6391" 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=SDHC&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
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<div>
|
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|
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<a id="title" class="mim-anchor"></a>
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<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1187383001, 128755003, 420120006, 722377004<br />
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<strong>ICD10CM:</strong> C49.A<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
602413
|
|
</span>
|
|
</span>
|
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C; SDHC
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|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN, 15-KD<br />
|
|
SUCCINATE DEHYDROGENASE 3, INTEGRAL MEMBRANE SUBUNIT; SDH3<br />
|
|
SUCCINATE DEHYDROGENASE CYTOCHROME b
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SDHC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SDHC</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/1/1349?start=-3&limit=10&highlight=1349">1q23.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:161314381-161363206&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'})">1:161,314,381-161,363,206</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
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|
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=606764,606864,605373" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1349?start=-3&limit=10&highlight=1349">
|
|
1q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Gastrointestinal stromal tumor
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/606764"> 606764 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Isolated cases">IC</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
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|
|
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|
|
|
|
|
|
</tr>
|
|
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|
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|
|
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Paraganglioma and gastric stromal sarcoma
|
|
|
|
</span>
|
|
</td>
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<p>Complex II (succinate-ubiquinone oxidoreductase) is an important enzyme complex in both the tricarboxylic acid cycle and the aerobic respiratory chains of mitochondria in eukaryotic cells and prokaryotic organisms. Complex II in mitochondria has 4 subunits. In order of decreasing molecular weight, they are the flavoprotein (SDHA; <a href="/entry/600857">600857</a>), the iron-sulfur protein (SDHB; <a href="/entry/185470">185470</a>), and 2 integral membrane proteins: the large cytochrome b, cybL or C, subunit (SDHC) and the small cybS or D subunit (SDHD; <a href="/entry/602690">602690</a>). Of the 5 mitochondrial complexes, I to V, complex II is the only one with no subunits encoded by the mitochondrial genome (summary by <a href="#5" class="mim-tip-reference" title="Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S., Kita, K. <strong>Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.</strong> Cytogenet. Cell Genet. 79: 132-138, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533030</a>] [<a href="https://doi.org/10.1159/000134700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9533030">Hirawake et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9533030" 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="#5" class="mim-tip-reference" title="Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S., Kita, K. <strong>Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.</strong> Cytogenet. Cell Genet. 79: 132-138, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533030</a>] [<a href="https://doi.org/10.1159/000134700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9533030">Hirawake et al. (1997)</a> deduced the amino acid sequences of the large (cybL, encoded by the SDHC gene) and small (cybS, encoded by the SDHD gene) subunits of cytochrome b in human liver complex II from cDNAs isolated by homology probing with mixed primers for the polymerase chain reaction. The mature cybL and cybS proteins contain 140 and 103 amino acids, respectively, and show little similarity to the amino acid sequences of the subunits from other species, in contrast to the highly conserved features of the flavoprotein (Fp) subunit (encoded by the SDHA gene) and the iron-sulfur protein (Ip) subunit (encoded by the SDHB gene). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9533030" 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>Oxidative damage has a role in cellular and organismal aging. Especially toxic are the reactive oxygen byproducts of respiration and other biologic processes. A mutant of the mev1 gene of Caenorhabditis elegans had been found to be hypersensitive to raised oxygen concentrations. Unlike the wildtype, its life span decreased dramatically as oxygen concentrations were increased from 1 to 60%. Strains bearing this mutation accumulated markers of aging (such as fluorescent materials and protein carbonyls) faster than the wildtype. <a href="#6" class="mim-tip-reference" title="Ishii, N., Fujii, M., Hartman, P. S., Tsuda, M., Yasuda, K., Senoo-Matsuda, N., Yanase, S., Ayusawa, D., Suzuki, K. <strong>A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes.</strong> Nature 394: 694-697, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9716135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9716135</a>] [<a href="https://doi.org/10.1038/29331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9716135">Ishii et al. (1998)</a> showed that mev1 encodes a subunit of the enzyme succinate dehydrogenase cytochrome b, which is a component of complex II of the mitochondrial electron transport chain. They found that the ability of complex II to catalyze electron transport from succinate to ubiquinone was compromised in the mev1 animals. This was thought to cause an indirect increase in superoxide levels, which in turn leads to oxygen hypersensitivity and premature aging. The results indicated that mev1 governs the rate of aging by modulating the cellular response to oxidative stress. This particular mutation in the mev1 mutant was shown to be a missense change resulting in a glycine to glutamic acid substitution in cyt1. The identity of the mev1 gene was established through its sequence homology to bovine succinate dehydrogenase cytochrome b(560) (<a href="#2" class="mim-tip-reference" title="Cochran, B., Capaldi, R. A., Ackrell, B. A. C. <strong>The cDNA sequence of beef heart C(II-3), a membrane-intrinsic subunit of succinate-ubiquinone oxidoreductase.</strong> Biochim. Biophys. Acta 1188: 162-166, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7947903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7947903</a>] [<a href="https://doi.org/10.1016/0005-2728(94)90035-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7947903">Cochran et al., 1994</a>). The wildtype gene introduced into the mev1 strain resulted in rescue from the hypersensitivity to raised oxygen concentrations. This was thought to be the first mutation in the SDH cytochrome b subunit to be identified in animals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7947903+9716135" 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>SDH Complex Function</em></strong></p><p>
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In mammalian cells, <a href="#14" class="mim-tip-reference" title="Spinelli, J. B., Rosen, P. C., Sprenger, H.-G., Puszynska, A. M., Mann, J. L., Roessler, J. M., Cangelosi, A. L., Henne, A., Condon, K. J., Zhang, T., Kunchok, T., Lewis, C. A., Chandel, N. S., Sabatini, D. M. <strong>Fumarate is a terminal electron acceptor in the mammalian electron transport chain.</strong> Science 374: 1227-1237, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855504</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34855504[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.abi7495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34855504">Spinelli et al. (2021)</a> found that when oxygen reduction is impeded, mitochondrial complex I and dihydroorotate dehydrogenase (DHODH; <a href="/entry/126064">126064</a>) can still deposit electrons into the electron transport chain because the accumulation of ubiquinol drives the succinate dehydrogenase complex in reverse to enable electron deposition onto fumarate. Fumarate sustains DHODH and complex I activities by acting as the terminal electron acceptor, maintaining mitochondrial function under oxygen limitation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34855504" 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="#4" class="mim-tip-reference" title="Elbehti-Green, A., Au, H. C., Mascarello, J. T., Ream-Robinson, D., Scheffler, I. E. <strong>Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.</strong> Gene 213: 133-140, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714607</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00186-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9714607">Elbehti-Green et al. (1998)</a> found that the SDHC gene contains 6 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By study of Chinese hamster-human somatic cell hybrids in which the hamster parental cell was deficient in succinate dehydrogenase, <a href="#8" class="mim-tip-reference" title="Mascarello, J. T., Soderberg, K., Scheffler, I. E. <strong>Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization.</strong> Cytogenet. Cell Genet. 28: 121-135, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6934864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6934864</a>] [<a href="https://doi.org/10.1159/000131520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6934864">Mascarello et al. (1980)</a> showed that the presence of human chromosome 1 correlated with restoration of SDH activity. SDH consists of 2 dissimilar peptides of 70,000 and 30,000 Da. These may be determined by separate genes or derived from a single proenzyme. It was presumed that, because it mapped to chromosome 1, the iron sulfur protein subunit gene complemented the deficiency in the mutant. <a href="#12" class="mim-tip-reference" title="Oostveen, F. G., Au, H. C., Meijer, P.-J., Scheffler, I. E. <strong>A Chinese hamster mutant cell line with a defect in the integral membrane protein C(II-3) of complex II of the mitochondrial electron transport chain.</strong> J. Biol. Chem. 270: 26104-26108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592812</a>] [<a href="https://doi.org/10.1074/jbc.270.44.26104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7592812">Oostveen et al. (1995)</a> found that in fact it was protein from the bovine SDH3 gene (encoding 1 of the 2 integral membrane proteins) that complemented the hamster mutation. The authors localized the human SDH3 gene to the short arm of chromosome one, within 1 to 2 Mb from the centromere. There are therefore 2 genes for complex II on human chromosome 1. Additionally, <a href="#12" class="mim-tip-reference" title="Oostveen, F. G., Au, H. C., Meijer, P.-J., Scheffler, I. E. <strong>A Chinese hamster mutant cell line with a defect in the integral membrane protein C(II-3) of complex II of the mitochondrial electron transport chain.</strong> J. Biol. Chem. 270: 26104-26108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592812</a>] [<a href="https://doi.org/10.1074/jbc.270.44.26104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7592812">Oostveen et al. (1995)</a> stated that Southern analyses of human genomic DNA suggested that there are multiple SDH3 genes or pseudogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6934864+7592812" 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 fluorescence in situ hybridization (FISH), <a href="#5" class="mim-tip-reference" title="Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S., Kita, K. <strong>Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.</strong> Cytogenet. Cell Genet. 79: 132-138, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533030</a>] [<a href="https://doi.org/10.1159/000134700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9533030">Hirawake et al. (1997)</a> mapped the genes for cybL and cybS to 1q21 and 11q23, respectively. <a href="#4" class="mim-tip-reference" title="Elbehti-Green, A., Au, H. C., Mascarello, J. T., Ream-Robinson, D., Scheffler, I. E. <strong>Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.</strong> Gene 213: 133-140, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714607</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00186-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9714607">Elbehti-Green et al. (1998)</a> confirmed the assignment of the SDHC gene to 1q21 by FISH. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9714607+9533030" 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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Because mutations in the SDHD gene, encoding the small subunit of cytochrome b in mitochondrial complex II, had been shown to be a site of mutation causing paraganglioma-1 (PPGL1; <a href="/entry/168000">168000</a>), <a href="#11" class="mim-tip-reference" title="Niemann, S., Muller, U. <strong>Mutations in SDHC cause autosomal dominant paraganglioma, type 3.</strong> Nature Genet. 26: 268-270, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062460</a>] [<a href="https://doi.org/10.1038/81551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062460">Niemann and Muller (2000)</a> sought mutations in SDHC, SDHA, and SDHB in a family with the nonmaternally imprinted paraganglioma-3 (PPGL3; <a href="/entry/605373">605373</a>). They identified a G-to-A transition in exon 1 of SDHC in all affected individuals (<a href="#0001">602413.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062460" 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="Baysal, B. E., Willett-Brozick, J. E., Filho, P. A. A., Lawrence, E. C., Myers, E. N., Ferrell, R. E. <strong>An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.</strong> J. Med. Genet. 41: 703-709, 2004. Note: Erratum: J. Med. Genet. 42: 582 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342702</a>] [<a href="https://doi.org/10.1136/jmg.2004.019224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342702">Baysal et al. (2004)</a> described a family with paragangliomas in which an 8,372-bp deletion in the SDHC gene (<a href="#0003">602413.0003</a>) was transmitted both maternally and paternally, without evidence of genomic imprinting. They also identified the deletion in an unrelated sporadic case. They concluded that hereditary paraganglioma with imprinted transmission is restricted to SDHD among complex II genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342702" 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>Paraganglioma and Gastric Stromal Sarcoma</em></strong></p><p>
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In 2 families with paraganglioma and gastric stromal sarcoma (<a href="/entry/606864">606864</a>), <a href="#9" class="mim-tip-reference" title="McWhinney, S. R., Pasini, B., Stratakis, C. A. <strong>Familial gastrointestinal stromal tumors and germ-line mutations. (Letter)</strong> New Eng. J. Med. 357: 1054-1056, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804857</a>] [<a href="https://doi.org/10.1056/NEJMc071191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17804857">McWhinney et al. (2007)</a> identified 2 different germline mutations in the SDHC gene, respectively (see, e.g., <a href="#0004">602413.0004</a>). In 4 other families with the dyad, the authors found germline mutations in the SDHB (see, e.g., <a href="/entry/185470#0012">185470.0012</a> and <a href="/entry/185470#0013">185470.0013</a>) and SDHD (<a href="/entry/602690#0027">602690.0027</a>) genes, respectively. None of the patients had mutations in the KIT (<a href="/entry/164920">164920</a>) or PDGFRA (<a href="/entry/173490">173490</a>) genes, which have been associated with gastrointestinal tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17804857" 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="#7" class="mim-tip-reference" title="Janeway, K. A., Kim, S. Y., Lodish, M., Nose, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., Lai, A. H., Kelly, L., and 10 others. <strong>Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.</strong> Proc. Nat. Acad. Sci. 108: 314-318, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21173220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21173220</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21173220[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/10.1073/pnas.1009199108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21173220">Janeway et al. (2011)</a> identified a germline mutation in the SDHC gene (<a href="#0004">602413.0004</a>) in a 16-year-old girl with sporadic occurrence of gastrointestinal stromal tumor (GIST; <a href="/entry/606764">606764</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21173220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#3" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human SDHC is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602413[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776652;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=rs587776652" 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=rs587776652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with familial nonchromaffin paragangliomas (PPGL3; <a href="/entry/605373">605373</a>), <a href="#11" class="mim-tip-reference" title="Niemann, S., Muller, U. <strong>Mutations in SDHC cause autosomal dominant paraganglioma, type 3.</strong> Nature Genet. 26: 268-270, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062460</a>] [<a href="https://doi.org/10.1038/81551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062460">Niemann and Muller (2000)</a> identified a G-to-A transition in exon 1 of the SDHC gene that destroyed the start codon ATG at nucleotide position 958. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587776653 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776653;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587776653?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776653" 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=rs587776653" 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=RCV000007664 OR RCV000574152 OR RCV000641917 OR RCV000681938 OR RCV003996080" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007664, RCV000574152, RCV000641917, RCV000681938, RCV003996080" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007664...</a>
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<p><a href="#10" class="mim-tip-reference" title="Niemann, S., Muller, U., Engelhardt, D., Lohse, P. <strong>Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.</strong> Hum. Genet. 113: 92-94, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12658451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12658451</a>] [<a href="https://doi.org/10.1007/s00439-003-0938-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12658451">Niemann et al. (2003)</a> described a 31-year-old female patient with hypotension and tachycardia. Whole body MRI showed a highly vascularized tumor at the right carotid bifurcation. The diagnosis of paraganglioma (PPGL3; <a href="/entry/605373">605373</a>) was confirmed histopathologically in the tumor, and a lymph node showed metastatic tissue. Sequence analysis of the patient's constitutive DNA revealed a heterozygous G-to-T transversion at position +1 of intron 5 of the SDHC gene. An identical germline mutation was observed in the patient's mother. A high resolution computed tomography of the neck, thorax, and abdomen, and urinary excretion of catecholamines in the patient's mother were normal. The mutation led to a deletion of exon 5 and a shift in the reading frame. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12658451" 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 affected members of a family with familial nonchromaffin paragangliomas (PPGL3; <a href="/entry/605373">605373</a>) ascertained from an analysis of familial and isolated paraganglioma cases from 2 U.S. otolaryngology clinics, <a href="#1" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Filho, P. A. A., Lawrence, E. C., Myers, E. N., Ferrell, R. E. <strong>An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.</strong> J. Med. Genet. 41: 703-709, 2004. Note: Erratum: J. Med. Genet. 42: 582 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342702</a>] [<a href="https://doi.org/10.1136/jmg.2004.019224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342702">Baysal et al. (2004)</a> identified an 8,372-bp deletion in the SDHC gene, which spanned 2 AluY elements and removed exon 6. The deletion caused PGL3 following both maternal and paternal transmissions in the pedigree and was also detected in an unrelated sporadic case who showed allele sharing with the familial cases at 7 polymorphic markers near SDHC, suggesting a common ancestral origin. These findings confirmed the role of SDHC in both familial and sporadic paragangliomas. The observation of both paternal and maternal disease transmission in PGL3, together with earlier findings, suggested that imprinted transmission in hereditary paraganglioma is restricted to SDHD (<a href="/entry/602690">602690</a>) among complex II genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587776653 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776653;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587776653?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776653" 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=rs587776653" 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=RCV000007666 OR RCV000023194 OR RCV000170333 OR RCV000505371 OR RCV001201884" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007666, RCV000023194, RCV000170333, RCV000505371, RCV001201884" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007666...</a>
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<p>In a female patient with paraganglioma and gastric stromal sarcoma (<a href="/entry/606864">606864</a>), <a href="#9" class="mim-tip-reference" title="McWhinney, S. R., Pasini, B., Stratakis, C. A. <strong>Familial gastrointestinal stromal tumors and germ-line mutations. (Letter)</strong> New Eng. J. Med. 357: 1054-1056, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804857</a>] [<a href="https://doi.org/10.1056/NEJMc071191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17804857">McWhinney et al. (2007)</a> identified a germline G-A transition at the splice donor site in intron 5 (IVS5DS+1) of the SDHC gene. Her unaffected mother also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17804857" 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="#13" class="mim-tip-reference" title="Pasini, B., McWhinney, S. R., Bei, T., Matyakhina, L., Stergiopoulos, S., Muchow, M., Boikos, S. A., Ferrando, B., Pacak, K., Assie, G., Baudin, E., Chompret, A., Ellison, J. W., Briere, J.-J., Rustin, P., Gimenez-Roqueplo, A.-P., Eng, C., Carney, J. A., Stratakis, C. A. <strong>Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.</strong> Europ. J. Hum. Genet. 16: 79-88, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17667967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17667967</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17667967">Pasini et al. (2008)</a> analyzed cDNA from the 20-year-old female in whom <a href="#9" class="mim-tip-reference" title="McWhinney, S. R., Pasini, B., Stratakis, C. A. <strong>Familial gastrointestinal stromal tumors and germ-line mutations. (Letter)</strong> New Eng. J. Med. 357: 1054-1056, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804857</a>] [<a href="https://doi.org/10.1056/NEJMc071191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17804857">McWhinney et al. (2007)</a> had identified the 405+1G-A mutation in the SDHC gene. They found that the mutant allele resulted in a sequence in which exon 5 was spliced out, causing a frameshift and a stop codon in the 3-prime untranslated region of the gene. DNA analysis of 2 tumor samples showed loss of the normal allele in both, suggesting that the gene defect acts in a recessive manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17667967+17804857" 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="#7" class="mim-tip-reference" title="Janeway, K. A., Kim, S. Y., Lodish, M., Nose, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., Lai, A. H., Kelly, L., and 10 others. <strong>Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.</strong> Proc. Nat. Acad. Sci. 108: 314-318, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21173220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21173220</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21173220[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/10.1073/pnas.1009199108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21173220">Janeway et al. (2011)</a> identified a germline R242H mutation in a 21-year-old patient with a sporadic gastrointestinal stromal tumor (GIST; <a href="/entry/606764">606764</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21173220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1136/jmg.2004.019224" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2728(94)90035-3" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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Elbehti-Green, A., Au, H. C., Mascarello, J. T., Ream-Robinson, D., Scheffler, I. E.
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<strong>Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0378-1119(98)00186-3" target="_blank">Full Text</a>]
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Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S., Kita, K.
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<strong>Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.</strong>
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Cytogenet. Cell Genet. 79: 132-138, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9533030" 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/10.1038/29331" target="_blank">Full Text</a>]
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Janeway, K. A., Kim, S. Y., Lodish, M., Nose, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., Lai, A. H., Kelly, L., and 10 others.
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<strong>Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.</strong>
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Proc. Nat. Acad. Sci. 108: 314-318, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21173220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21173220</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21173220[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=21173220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mascarello, J. T., Soderberg, K., Scheffler, I. E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6934864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6934864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6934864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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McWhinney, S. R., Pasini, B., Stratakis, C. A.
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<strong>Familial gastrointestinal stromal tumors and germ-line mutations. (Letter)</strong>
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New Eng. J. Med. 357: 1054-1056, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17804857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMc071191" target="_blank">Full Text</a>]
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Niemann, S., Muller, U., Engelhardt, D., Lohse, P.
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<strong>Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.</strong>
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Hum. Genet. 113: 92-94, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12658451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12658451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12658451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Niemann, S., Muller, U.
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<strong>Mutations in SDHC cause autosomal dominant paraganglioma, type 3.</strong>
|
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Nature Genet. 26: 268-270, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062460" 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/10.1038/81551" 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="12" class="mim-anchor"></a>
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<a id="Oostveen1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oostveen, F. G., Au, H. C., Meijer, P.-J., Scheffler, I. E.
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|
<strong>A Chinese hamster mutant cell line with a defect in the integral membrane protein C(II-3) of complex II of the mitochondrial electron transport chain.</strong>
|
|
J. Biol. Chem. 270: 26104-26108, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7592812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7592812</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7592812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.270.44.26104" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Pasini2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pasini, B., McWhinney, S. R., Bei, T., Matyakhina, L., Stergiopoulos, S., Muchow, M., Boikos, S. A., Ferrando, B., Pacak, K., Assie, G., Baudin, E., Chompret, A., Ellison, J. W., Briere, J.-J., Rustin, P., Gimenez-Roqueplo, A.-P., Eng, C., Carney, J. A., Stratakis, C. A.
|
|
<strong>Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.</strong>
|
|
Europ. J. Hum. Genet. 16: 79-88, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17667967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17667967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17667967" 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/sj.ejhg.5201904" 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="14" class="mim-anchor"></a>
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<a id="Spinelli2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spinelli, J. B., Rosen, P. C., Sprenger, H.-G., Puszynska, A. M., Mann, J. L., Roessler, J. M., Cangelosi, A. L., Henne, A., Condon, K. J., Zhang, T., Kunchok, T., Lewis, C. A., Chandel, N. S., Sabatini, D. M.
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<strong>Fumarate is a terminal electron acceptor in the mammalian electron transport chain.</strong>
|
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Science 374: 1227-1237, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855504</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34855504[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=34855504" 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.abi7495" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/28/2022
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/21/2017<br>Cassandra L. Kniffin - updated : 6/2/2011<br>Marla J. F. O'Neill - updated : 5/6/2008<br>Marla J. F. O'Neill - updated : 9/24/2007<br>Victor A. McKusick - updated : 10/12/2004<br>Victor A. McKusick - updated : 6/10/2003<br>Victor A. McKusick - updated : 10/25/2000<br>Victor A. McKusick - updated : 10/9/1998<br>Alan F. Scott - updated : 9/29/1998<br>Victor A. McKusick - updated : 6/5/1998
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</span>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/3/1998
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/18/2024
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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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carol : 10/17/2023<br>alopez : 11/28/2022<br>carol : 04/09/2021<br>carol : 04/08/2021<br>ckniffin : 04/05/2021<br>carol : 01/31/2018<br>alopez : 02/21/2017<br>terry : 10/10/2012<br>wwang : 6/9/2011<br>ckniffin : 6/2/2011<br>terry : 9/4/2009<br>carol : 5/7/2008<br>terry : 5/6/2008<br>wwang : 9/28/2007<br>terry : 9/24/2007<br>ckniffin : 1/19/2005<br>tkritzer : 10/15/2004<br>terry : 10/12/2004<br>cwells : 6/13/2003<br>terry : 6/10/2003<br>alopez : 1/7/2003<br>alopez : 10/31/2000<br>terry : 10/25/2000<br>carol : 11/10/1998<br>carol : 10/9/1998<br>dkim : 9/30/1998<br>carol : 9/29/1998<br>carol : 6/5/1998<br>alopez : 3/3/1998
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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>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602413
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C; SDHC
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN, 15-KD<br />
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SUCCINATE DEHYDROGENASE 3, INTEGRAL MEMBRANE SUBUNIT; SDH3<br />
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SUCCINATE DEHYDROGENASE CYTOCHROME b
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SDHC</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1187383001, 128755003, 420120006, 722377004;
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<strong>ICD10CM:</strong> C49.A;
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</span>
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</p>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:161,314,381-161,363,206 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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1q23.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Gastrointestinal stromal tumor
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</span>
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</td>
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<td>
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<span class="mim-font">
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606764
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Isolated cases
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Paraganglioma and gastric stromal sarcoma
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</span>
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</td>
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<td>
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<span class="mim-font">
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606864
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Pheochromocytoma/paraganglioma syndrome 3
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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605373
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Complex II (succinate-ubiquinone oxidoreductase) is an important enzyme complex in both the tricarboxylic acid cycle and the aerobic respiratory chains of mitochondria in eukaryotic cells and prokaryotic organisms. Complex II in mitochondria has 4 subunits. In order of decreasing molecular weight, they are the flavoprotein (SDHA; 600857), the iron-sulfur protein (SDHB; 185470), and 2 integral membrane proteins: the large cytochrome b, cybL or C, subunit (SDHC) and the small cybS or D subunit (SDHD; 602690). Of the 5 mitochondrial complexes, I to V, complex II is the only one with no subunits encoded by the mitochondrial genome (summary by Hirawake et al., 1997). </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>Hirawake et al. (1997) deduced the amino acid sequences of the large (cybL, encoded by the SDHC gene) and small (cybS, encoded by the SDHD gene) subunits of cytochrome b in human liver complex II from cDNAs isolated by homology probing with mixed primers for the polymerase chain reaction. The mature cybL and cybS proteins contain 140 and 103 amino acids, respectively, and show little similarity to the amino acid sequences of the subunits from other species, in contrast to the highly conserved features of the flavoprotein (Fp) subunit (encoded by the SDHA gene) and the iron-sulfur protein (Ip) subunit (encoded by the SDHB gene). </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">
|
|
<p>Oxidative damage has a role in cellular and organismal aging. Especially toxic are the reactive oxygen byproducts of respiration and other biologic processes. A mutant of the mev1 gene of Caenorhabditis elegans had been found to be hypersensitive to raised oxygen concentrations. Unlike the wildtype, its life span decreased dramatically as oxygen concentrations were increased from 1 to 60%. Strains bearing this mutation accumulated markers of aging (such as fluorescent materials and protein carbonyls) faster than the wildtype. Ishii et al. (1998) showed that mev1 encodes a subunit of the enzyme succinate dehydrogenase cytochrome b, which is a component of complex II of the mitochondrial electron transport chain. They found that the ability of complex II to catalyze electron transport from succinate to ubiquinone was compromised in the mev1 animals. This was thought to cause an indirect increase in superoxide levels, which in turn leads to oxygen hypersensitivity and premature aging. The results indicated that mev1 governs the rate of aging by modulating the cellular response to oxidative stress. This particular mutation in the mev1 mutant was shown to be a missense change resulting in a glycine to glutamic acid substitution in cyt1. The identity of the mev1 gene was established through its sequence homology to bovine succinate dehydrogenase cytochrome b(560) (Cochran et al., 1994). The wildtype gene introduced into the mev1 strain resulted in rescue from the hypersensitivity to raised oxygen concentrations. This was thought to be the first mutation in the SDH cytochrome b subunit to be identified in animals. </p><p><strong><em>SDH Complex Function</em></strong></p><p>
|
|
In mammalian cells, Spinelli et al. (2021) found that when oxygen reduction is impeded, mitochondrial complex I and dihydroorotate dehydrogenase (DHODH; 126064) can still deposit electrons into the electron transport chain because the accumulation of ubiquinol drives the succinate dehydrogenase complex in reverse to enable electron deposition onto fumarate. Fumarate sustains DHODH and complex I activities by acting as the terminal electron acceptor, maintaining mitochondrial function under oxygen limitation. </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>Elbehti-Green et al. (1998) found that the SDHC gene contains 6 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By study of Chinese hamster-human somatic cell hybrids in which the hamster parental cell was deficient in succinate dehydrogenase, Mascarello et al. (1980) showed that the presence of human chromosome 1 correlated with restoration of SDH activity. SDH consists of 2 dissimilar peptides of 70,000 and 30,000 Da. These may be determined by separate genes or derived from a single proenzyme. It was presumed that, because it mapped to chromosome 1, the iron sulfur protein subunit gene complemented the deficiency in the mutant. Oostveen et al. (1995) found that in fact it was protein from the bovine SDH3 gene (encoding 1 of the 2 integral membrane proteins) that complemented the hamster mutation. The authors localized the human SDH3 gene to the short arm of chromosome one, within 1 to 2 Mb from the centromere. There are therefore 2 genes for complex II on human chromosome 1. Additionally, Oostveen et al. (1995) stated that Southern analyses of human genomic DNA suggested that there are multiple SDH3 genes or pseudogenes. </p><p>By fluorescence in situ hybridization (FISH), Hirawake et al. (1997) mapped the genes for cybL and cybS to 1q21 and 11q23, respectively. Elbehti-Green et al. (1998) confirmed the assignment of the SDHC gene to 1q21 by FISH. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Pheochromocytoma/Paraganglioma Syndrome 3</em></strong></p><p>
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Because mutations in the SDHD gene, encoding the small subunit of cytochrome b in mitochondrial complex II, had been shown to be a site of mutation causing paraganglioma-1 (PPGL1; 168000), Niemann and Muller (2000) sought mutations in SDHC, SDHA, and SDHB in a family with the nonmaternally imprinted paraganglioma-3 (PPGL3; 605373). They identified a G-to-A transition in exon 1 of SDHC in all affected individuals (602413.0001). </p><p>Baysal et al. (2004) described a family with paragangliomas in which an 8,372-bp deletion in the SDHC gene (602413.0003) was transmitted both maternally and paternally, without evidence of genomic imprinting. They also identified the deletion in an unrelated sporadic case. They concluded that hereditary paraganglioma with imprinted transmission is restricted to SDHD among complex II genes. </p><p><strong><em>Paraganglioma and Gastric Stromal Sarcoma</em></strong></p><p>
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In 2 families with paraganglioma and gastric stromal sarcoma (606864), McWhinney et al. (2007) identified 2 different germline mutations in the SDHC gene, respectively (see, e.g., 602413.0004). In 4 other families with the dyad, the authors found germline mutations in the SDHB (see, e.g., 185470.0012 and 185470.0013) and SDHD (602690.0027) genes, respectively. None of the patients had mutations in the KIT (164920) or PDGFRA (173490) genes, which have been associated with gastrointestinal tumors. </p><p>Janeway et al. (2011) identified a germline mutation in the SDHC gene (602413.0004) in a 16-year-old girl with sporadic occurrence of gastrointestinal stromal tumor (GIST; 606764). </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 a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human SDHC is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 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">
|
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<strong>.0001 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3</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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SDHC, 958G-A
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<br />
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SNP: rs587776652,
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ClinVar: RCV000007663, RCV000812224, RCV004589499
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with familial nonchromaffin paragangliomas (PPGL3; 605373), Niemann and Muller (2000) identified a G-to-A transition in exon 1 of the SDHC gene that destroyed the start codon ATG at nucleotide position 958. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3</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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SDHC, IVS5, G-T, +1
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<br />
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SNP: rs587776653,
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gnomAD: rs587776653,
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ClinVar: RCV000007664, RCV000574152, RCV000641917, RCV000681938, RCV003996080
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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>Niemann et al. (2003) described a 31-year-old female patient with hypotension and tachycardia. Whole body MRI showed a highly vascularized tumor at the right carotid bifurcation. The diagnosis of paraganglioma (PPGL3; 605373) was confirmed histopathologically in the tumor, and a lymph node showed metastatic tissue. Sequence analysis of the patient's constitutive DNA revealed a heterozygous G-to-T transversion at position +1 of intron 5 of the SDHC gene. An identical germline mutation was observed in the patient's mother. A high resolution computed tomography of the neck, thorax, and abdomen, and urinary excretion of catecholamines in the patient's mother were normal. The mutation led to a deletion of exon 5 and a shift in the reading frame. </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>.0003 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3</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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SDHC, 8,372-BP DEL
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<br />
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ClinVar: RCV000007665
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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 affected members of a family with familial nonchromaffin paragangliomas (PPGL3; 605373) ascertained from an analysis of familial and isolated paraganglioma cases from 2 U.S. otolaryngology clinics, Baysal et al. (2004) identified an 8,372-bp deletion in the SDHC gene, which spanned 2 AluY elements and removed exon 6. The deletion caused PGL3 following both maternal and paternal transmissions in the pedigree and was also detected in an unrelated sporadic case who showed allele sharing with the familial cases at 7 polymorphic markers near SDHC, suggesting a common ancestral origin. These findings confirmed the role of SDHC in both familial and sporadic paragangliomas. The observation of both paternal and maternal disease transmission in PGL3, together with earlier findings, suggested that imprinted transmission in hereditary paraganglioma is restricted to SDHD (602690) among complex II genes. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
GASTROINTESTINAL STROMAL TUMOR, INCLUDED
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SDHC, IVS5DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776653,
|
|
|
|
|
|
gnomAD: rs587776653,
|
|
|
|
|
|
ClinVar: RCV000007666, RCV000023194, RCV000170333, RCV000505371, RCV001201884
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with paraganglioma and gastric stromal sarcoma (606864), McWhinney et al. (2007) identified a germline G-A transition at the splice donor site in intron 5 (IVS5DS+1) of the SDHC gene. Her unaffected mother also carried the mutation. </p><p>Pasini et al. (2008) analyzed cDNA from the 20-year-old female in whom McWhinney et al. (2007) had identified the 405+1G-A mutation in the SDHC gene. They found that the mutant allele resulted in a sequence in which exon 5 was spliced out, causing a frameshift and a stop codon in the 3-prime untranslated region of the gene. DNA analysis of 2 tumor samples showed loss of the normal allele in both, suggesting that the gene defect acts in a recessive manner. </p><p>Janeway et al. (2011) identified a germline R242H mutation in a 21-year-old patient with a sporadic gastrointestinal stromal tumor (GIST; 606764). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<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">
|
|
Baysal, B. E., Willett-Brozick, J. E., Filho, P. A. A., Lawrence, E. C., Myers, E. N., Ferrell, R. E.
|
|
<strong>An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.</strong>
|
|
J. Med. Genet. 41: 703-709, 2004. Note: Erratum: J. Med. Genet. 42: 582 only, 2005.
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[PubMed: 15342702]
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[Full Text: https://doi.org/10.1136/jmg.2004.019224]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cochran, B., Capaldi, R. A., Ackrell, B. A. C.
|
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<strong>The cDNA sequence of beef heart C(II-3), a membrane-intrinsic subunit of succinate-ubiquinone oxidoreductase.</strong>
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|
Biochim. Biophys. Acta 1188: 162-166, 1994.
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[PubMed: 7947903]
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[Full Text: https://doi.org/10.1016/0005-2728(94)90035-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Elbehti-Green, A., Au, H. C., Mascarello, J. T., Ream-Robinson, D., Scheffler, I. E.
|
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<strong>Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.</strong>
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Gene 213: 133-140, 1998.
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[PubMed: 9714607]
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[Full Text: https://doi.org/10.1016/s0378-1119(98)00186-3]
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</p>
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<li>
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<p class="mim-text-font">
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Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S., Kita, K.
|
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<strong>Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.</strong>
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Cytogenet. Cell Genet. 79: 132-138, 1997.
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[PubMed: 9533030]
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[Full Text: https://doi.org/10.1159/000134700]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ishii, N., Fujii, M., Hartman, P. S., Tsuda, M., Yasuda, K., Senoo-Matsuda, N., Yanase, S., Ayusawa, D., Suzuki, K.
|
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<strong>A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes.</strong>
|
|
Nature 394: 694-697, 1998.
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[PubMed: 9716135]
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[Full Text: https://doi.org/10.1038/29331]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Janeway, K. A., Kim, S. Y., Lodish, M., Nose, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., Lai, A. H., Kelly, L., and 10 others.
|
|
<strong>Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.</strong>
|
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Proc. Nat. Acad. Sci. 108: 314-318, 2011.
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[PubMed: 21173220]
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[Full Text: https://doi.org/10.1073/pnas.1009199108]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Mascarello, J. T., Soderberg, K., Scheffler, I. E.
|
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<strong>Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization.</strong>
|
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Cytogenet. Cell Genet. 28: 121-135, 1980.
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[PubMed: 6934864]
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[Full Text: https://doi.org/10.1159/000131520]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
McWhinney, S. R., Pasini, B., Stratakis, C. A.
|
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<strong>Familial gastrointestinal stromal tumors and germ-line mutations. (Letter)</strong>
|
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New Eng. J. Med. 357: 1054-1056, 2007.
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[PubMed: 17804857]
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[Full Text: https://doi.org/10.1056/NEJMc071191]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Niemann, S., Muller, U., Engelhardt, D., Lohse, P.
|
|
<strong>Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.</strong>
|
|
Hum. Genet. 113: 92-94, 2003.
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[PubMed: 12658451]
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[Full Text: https://doi.org/10.1007/s00439-003-0938-0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Niemann, S., Muller, U.
|
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<strong>Mutations in SDHC cause autosomal dominant paraganglioma, type 3.</strong>
|
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Nature Genet. 26: 268-270, 2000.
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[PubMed: 11062460]
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[Full Text: https://doi.org/10.1038/81551]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Oostveen, F. G., Au, H. C., Meijer, P.-J., Scheffler, I. E.
|
|
<strong>A Chinese hamster mutant cell line with a defect in the integral membrane protein C(II-3) of complex II of the mitochondrial electron transport chain.</strong>
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J. Biol. Chem. 270: 26104-26108, 1995.
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[PubMed: 7592812]
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[Full Text: https://doi.org/10.1074/jbc.270.44.26104]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Pasini, B., McWhinney, S. R., Bei, T., Matyakhina, L., Stergiopoulos, S., Muchow, M., Boikos, S. A., Ferrando, B., Pacak, K., Assie, G., Baudin, E., Chompret, A., Ellison, J. W., Briere, J.-J., Rustin, P., Gimenez-Roqueplo, A.-P., Eng, C., Carney, J. A., Stratakis, C. A.
|
|
<strong>Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.</strong>
|
|
Europ. J. Hum. Genet. 16: 79-88, 2008.
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|
[PubMed: 17667967]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201904]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Spinelli, J. B., Rosen, P. C., Sprenger, H.-G., Puszynska, A. M., Mann, J. L., Roessler, J. M., Cangelosi, A. L., Henne, A., Condon, K. J., Zhang, T., Kunchok, T., Lewis, C. A., Chandel, N. S., Sabatini, D. M.
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<strong>Fumarate is a terminal electron acceptor in the mammalian electron transport chain.</strong>
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Science 374: 1227-1237, 2021.
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[PubMed: 34855504]
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[Full Text: https://doi.org/10.1126/science.abi7495]
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Victor A. McKusick : 3/3/1998
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