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- *516002 - COMPLEX I, SUBUNIT ND3; MTND3
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- OMIM
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<p>
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<span class="h4">*516002</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</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/516002">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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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-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=ENSG00000198840;t=-" 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://mitomap.org/bin/view.pl/Main/SearchSite?search=MT-ND3" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MITOMAP', 'domain': 'mitomap.org'})">MITOMAP</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4537" 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=516002" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000198840;t=-" 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</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=516002" 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 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://www.proteinatlas.org/search/MT-ND3" 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/128710,506832,251831114" 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/P03897" 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 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=4537" 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=ENSG00000198840;t=-" 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=MT-ND3" 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=MT-ND3" 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+4537" 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/MT-ND3" 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:4537" 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/4537" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7458" 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=516002[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 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 id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=516002[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/ENSG00000198840" 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.gwascentral.org/search?q=MT-ND3" 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=MT-ND3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MT-ND3&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/PA31262" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7458" 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/FBgn0013681.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:102499" 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/MT-ND3#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:102499" 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/4537/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=4537" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4537" 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=MT-ND3&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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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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516002
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COMPLEX I, SUBUNIT ND3; MTND3
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NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3<br />
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NADH DEHYDROGENASE, SUBUNIT 3
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-ND3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-ND3</a></em></strong>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Subunit 3 is 1 of 7 mitochondrial DNA (mtDNA) encoded subunits (MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6) included among the approximately 41 polypeptides of respiratory Complex I (NADH:ubiquinone oxidoreductase, <a href="https://enzyme.expasy.org/EC/1.6.5.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.6.5.3</a>) (<a href="#23" class="mim-tip-reference" title="Shoffner, J. M., Wallace, D. C. <strong>Oxidative phosphorylation diseases.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. 1. (7th ed.)</strong> New York: McGraw-Hill (pub.) 1995. Pp. 1535-1609."None>Shoffner and Wallace, 1995</a>; <a href="#2" class="mim-tip-reference" title="Arizmendi, J. M., Skehel, J. M., Runswick, M. J., Fearnley, I. M., Walker, J. E. <strong>Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Complementation of the primary structure of the complex.</strong> FEBS Lett. 313: 80, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1426273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1426273</a>] [<a href="https://doi.org/10.1016/0014-5793(92)81189-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1426273">Arizmendi et al., 1992</a>; <a href="#27" class="mim-tip-reference" title="Walker, J. E., Arizmendi, J. M., Dupuis, A., Fearnley, I. M., Finel, M., Medd, S. M., Pilkington, S. J., Runswick, M. J., Skehel, J. M. <strong>Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.</strong> J. Molec. Biol. 226: 1051, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1518044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1518044</a>] [<a href="https://doi.org/10.1016/0022-2836(92)91052-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1518044">Walker et al., 1992</a>; <a href="#1" class="mim-tip-reference" title="Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G. <strong>Sequence and organization of the human mitochondrial genome.</strong> Nature 290: 457-465, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>] [<a href="https://doi.org/10.1038/290457a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219534">Anderson et al., 1981</a>; <a href="#3" class="mim-tip-reference" title="Attardi, G., Chomyn, A., Doolittle, R. F., Mariottini, P., Ragan, C. I. <strong>Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase.</strong> Cold Spring Harbor Symp. Quant. Biol. 51: 103-114, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3472707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3472707</a>] [<a href="https://doi.org/10.1101/sqb.1986.051.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3472707">Attardi et al., 1986</a>; Chomyn et al. (<a href="#9" class="mim-tip-reference" title="Chomyn, A., Mariottini, P., Cleeter, M. W. J., Ragan, C. I., Matsuno-Yagi, A., Hatefi, Y., Doolittle, R. G., Attardi, G. <strong>Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.</strong> Nature 314: 592-597, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3921850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3921850</a>] [<a href="https://doi.org/10.1038/314592a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3921850">1985</a>, <a href="#8" class="mim-tip-reference" title="Chomyn, A., Cleeter, W. J., Ragan, C. I., Riley, M., Doolittle, R. F., Attardi, G. <strong>URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.</strong> Science 234: 614-618, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3764430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3764430</a>] [<a href="https://doi.org/10.1126/science.3764430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3764430">1986</a>); <a href="#30" class="mim-tip-reference" title="Wallace, D. C., Yang, J., Ye, J., Lott, M. T., Oliver, N. A., McCarthy, J. <strong>Computer prediction of peptide maps: Assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.</strong> Am. J. Hum. Genet. 38: 461, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3518425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3518425</a>]" pmid="3518425">Wallace et al., 1986</a>; <a href="#19" class="mim-tip-reference" title="Oliver, N. A., Wallace, D. C. <strong>Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.</strong> Molec. Cell. Biol. 2: 30-41, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6955589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6955589</a>] [<a href="https://doi.org/10.1128/mcb.2.1.30-41.1982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6955589">Oliver and Wallace, 1982</a>; <a href="#28" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torrini, A., Brown, M. D., Shoffner, J. M. <strong>Report of the committee on human mitochondrial DNA.In: Cuticchia, A. J.; Pearson, P. L. (eds.) : Human Gene Mapping, 1993: A Compendium.</strong> Baltimore: Johns Hopkins Univ. Press (pub.) 1994. Pp. 813-845."None>Wallace et al., 1994</a>). Complex I accepts electron from NADH, transfers them to ubiquinone (Coenzyme Q10) and uses the energy released to pump protons across the mitochondrial inner membrane. Complex I is more fully described under <a href="/entry/516000">516000</a>. MTND3 has been localized to the hydrophobic protein fragment of the Complex (<a href="#21" class="mim-tip-reference" title="Ragan, C. I. <strong>Structure of NADH-ubiquinone reductase (Complex I).</strong> Curr. Top. Bioenerg. 15: 1-36, 1987."None>Ragan, 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3472707+7219534+6955589+3921850+1426273+3764430+1518044+3518425" 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>MTND3 is encoded by the guanine-rich heavy (H) strand of the mtDNA and located between nucleotide pairs (nps) 10059 and 10404 (<a href="#1" class="mim-tip-reference" title="Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G. <strong>Sequence and organization of the human mitochondrial genome.</strong> Nature 290: 457-465, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>] [<a href="https://doi.org/10.1038/290457a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219534">Anderson et al., 1981</a>; <a href="#28" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torrini, A., Brown, M. D., Shoffner, J. M. <strong>Report of the committee on human mitochondrial DNA.In: Cuticchia, A. J.; Pearson, P. L. (eds.) : Human Gene Mapping, 1993: A Compendium.</strong> Baltimore: Johns Hopkins Univ. Press (pub.) 1994. Pp. 813-845."None>Wallace et al., 1994</a>). It is maternally inherited along with the mtDNA (<a href="#11" class="mim-tip-reference" title="Giles, R. E., Blanc, H., Cann, H. M., Wallace, D. C. <strong>Maternal inheritance of human mitochondrial DNA.</strong> Proc. Nat. Acad. Sci. 77: 6715-6719, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6256757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6256757</a>] [<a href="https://doi.org/10.1073/pnas.77.11.6715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6256757">Giles et al., 1980</a>; <a href="#6" class="mim-tip-reference" title="Case, J. T., Wallace, D. C. <strong>Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.</strong> Somat. Cell Genet. 7: 103-108, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6261411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6261411</a>] [<a href="https://doi.org/10.1007/BF01544751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6261411">Case and Wallace, 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6261411+6256757+7219534" 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>The MTND3 gene encompasses 345 nps of continuous coding sequence. It contains no introns, begins with the AUG methionine codon, and ends with the U of the UAA stop codon (<a href="#1" class="mim-tip-reference" title="Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G. <strong>Sequence and organization of the human mitochondrial genome.</strong> Nature 290: 457-465, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>] [<a href="https://doi.org/10.1038/290457a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219534">Anderson et al., 1981</a>; <a href="#16" class="mim-tip-reference" title="Ojala, D., Montoya, J., Attardi, G. <strong>tRNA punctuation model of RNA processing in human mitochondria.</strong> Nature 290: 470-474, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219536</a>] [<a href="https://doi.org/10.1038/290470a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219536">Ojala et al., 1981</a>; <a href="#15" class="mim-tip-reference" title="Montoya, J., Ojala, D., Attardi, G. <strong>Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.</strong> Nature 290: 465-470, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219535</a>] [<a href="https://doi.org/10.1038/290465a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219535">Montoya et al., 1981</a>). It is transcribed as a part of the polycistronic H-strand transcript, flanked by the tRNA(Gly) and tRNA(Arg) transcripts. These tRNAs are cleaved from the RNA freeing transcript 17, the MTND3 mRNA. The mRNA is then polyadenylated completing the termination codon (<a href="#1" class="mim-tip-reference" title="Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G. <strong>Sequence and organization of the human mitochondrial genome.</strong> Nature 290: 457-465, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>] [<a href="https://doi.org/10.1038/290457a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219534">Anderson et al., 1981</a>; <a href="#16" class="mim-tip-reference" title="Ojala, D., Montoya, J., Attardi, G. <strong>tRNA punctuation model of RNA processing in human mitochondria.</strong> Nature 290: 470-474, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219536</a>] [<a href="https://doi.org/10.1038/290470a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219536">Ojala et al., 1981</a>; <a href="#4" class="mim-tip-reference" title="Attardi, G., Chomyn, A., Montoya, J., Ojala, D. <strong>Identification and mapping of human mitochondrial genes.</strong> Cytogenet. Cell Genet. 32: 85-98, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7140372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7140372</a>] [<a href="https://doi.org/10.1159/000131689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7140372">Attardi et al., 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7140372+7219535+7219536+7219534" 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>The predicted polypeptide has a molecular weight of 13.2 kD (<a href="#1" class="mim-tip-reference" title="Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G. <strong>Sequence and organization of the human mitochondrial genome.</strong> Nature 290: 457-465, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>] [<a href="https://doi.org/10.1038/290457a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219534">Anderson et al., 1981</a>; <a href="#28" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torrini, A., Brown, M. D., Shoffner, J. M. <strong>Report of the committee on human mitochondrial DNA.In: Cuticchia, A. J.; Pearson, P. L. (eds.) : Human Gene Mapping, 1993: A Compendium.</strong> Baltimore: Johns Hopkins Univ. Press (pub.) 1994. Pp. 813-845."None>Wallace et al., 1994</a>). However, its apparent MW on SDS-polyacrylamide gel (PAGE) using Tris-glycine buffer is 13.5 kD (<a href="#18" class="mim-tip-reference" title="Oliver, N. A., McCarthy, J., Wallace, D. C. <strong>Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.</strong> Somat. Cell Molec. Genet. 10: 639-643, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6438810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6438810</a>] [<a href="https://doi.org/10.1007/BF01535230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6438810">Oliver et al., 1984</a>; <a href="#19" class="mim-tip-reference" title="Oliver, N. A., Wallace, D. C. <strong>Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.</strong> Molec. Cell. Biol. 2: 30-41, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6955589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6955589</a>] [<a href="https://doi.org/10.1128/mcb.2.1.30-41.1982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6955589">Oliver and Wallace, 1982</a>; <a href="#30" class="mim-tip-reference" title="Wallace, D. C., Yang, J., Ye, J., Lott, M. T., Oliver, N. A., McCarthy, J. <strong>Computer prediction of peptide maps: Assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.</strong> Am. J. Hum. Genet. 38: 461, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3518425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3518425</a>]" pmid="3518425">Wallace et al., 1986</a>) whereas on SDS-PAGE using urea-phosphate buffer it is 6 kD (<a href="#10" class="mim-tip-reference" title="Chomyn, A., Mariottini, P., Gonzalez-Cadavid, N., Attardi, G., Strong, D. D., Trovato, D., Riley, M., Doolittle, R. F. <strong>Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA.</strong> Proc. Nat. Acad. Sci. 80: 5535-5539, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6225122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6225122</a>] [<a href="https://doi.org/10.1073/pnas.80.18.5535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6225122">Chomyn et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6438810+7219534+6225122+6955589+3518425" 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>Several restriction site polymorphisms have been identified at the following nucleotide position for the indicated enzymes (where '+' = site gain, '-' = site loss relative to the reference sequence, <a href="#1" class="mim-tip-reference" title="Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G. <strong>Sequence and organization of the human mitochondrial genome.</strong> Nature 290: 457-465, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>] [<a href="https://doi.org/10.1038/290457a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7219534">Anderson et al., 1981</a>): Dde I:+10394; Hae III:, +10097, -10364; Hha I: +10066; HinfI:-10256; Mbo I: -10254; Taq I: +10084, -10180, +10252 (<a href="#28" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torrini, A., Brown, M. D., Shoffner, J. M. <strong>Report of the committee on human mitochondrial DNA.In: Cuticchia, A. J.; Pearson, P. L. (eds.) : Human Gene Mapping, 1993: A Compendium.</strong> Baltimore: Johns Hopkins Univ. Press (pub.) 1994. Pp. 813-845."None>Wallace et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7219534" 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 prominent polypeptide polymorphism has been identified in MTND3 from certain African-derived mtDNAs including that of HeLa cells (<a href="#33" class="mim-tip-reference" title="Yatscoff, R. W., Goldstein, S., Freeman, K. B. <strong>Conservation of genes coding for proteins synthesized in human mitochondria.</strong> Somat. Cell Genet. 4: 633-645, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/741350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">741350</a>] [<a href="https://doi.org/10.1007/BF01543155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="741350">Yatscoff et al., 1978</a>; <a href="#19" class="mim-tip-reference" title="Oliver, N. A., Wallace, D. C. <strong>Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.</strong> Molec. Cell. Biol. 2: 30-41, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6955589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6955589</a>] [<a href="https://doi.org/10.1128/mcb.2.1.30-41.1982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6955589">Oliver and Wallace, 1982</a>; <a href="#24" class="mim-tip-reference" title="Spinner, N. B., King, M. C. <strong>Polymorphisms of mitochondrially encoded proteins.</strong> Am. J. Hum. Genet. 38: 159-169, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3946421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3946421</a>]" pmid="3946421">Spinner and King, 1986</a>; <a href="#29" class="mim-tip-reference" title="Wallace, D. C., Oliver, N. A., Blanc, H., Adams, C. W. <strong>A system to study human mitochondrial genes: application to chloramphenicol resistance.In: Slonimski, P.; Borst, P.; Attardi, G. (eds.) : Mitochondrial Genes.</strong> Cold Spring Harbor, New York: Cold Spring Harbor Laboratory (pub.) 1982. Pp. 105-106."None>Wallace et al., 1982</a>; <a href="#29" class="mim-tip-reference" title="Wallace, D. C., Oliver, N. A., Blanc, H., Adams, C. W. <strong>A system to study human mitochondrial genes: application to chloramphenicol resistance.In: Slonimski, P.; Borst, P.; Attardi, G. (eds.) : Mitochondrial Genes.</strong> Cold Spring Harbor, New York: Cold Spring Harbor Laboratory (pub.) 1982. Pp. 105-106."None>Wallace et al., 1982</a>). The polymorphism is the product of an A to G transition of np 10086, which changes an asparagine to an aspartate (N10D), placing a negatively charged amino acid within a stretch of 30 uncharged amino acids (<a href="#17" class="mim-tip-reference" title="Oliver, N. A., Greenberg, B. D., Wallace, D. C. <strong>Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.</strong> J. Biol. Chem. 258: 5834-5839, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6343397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6343397</a>]" pmid="6343397">Oliver et al., 1983</a>). A second polymorphism at np 10398 (<a href="#0002">516002.0002</a>) changes the penultimate amino acid from threonine to alanine (<a href="#17" class="mim-tip-reference" title="Oliver, N. A., Greenberg, B. D., Wallace, D. C. <strong>Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.</strong> J. Biol. Chem. 258: 5834-5839, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6343397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6343397</a>]" pmid="6343397">Oliver et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=741350+6955589+3946421+6343397" 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>Mitochondrial Complex I Deficiency, Mitochondrial Type 1</em></strong></p><p>
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In a patient with mitochondrial complex I deficiency (<a href="/entry/500014">500014</a>), <a href="#25" class="mim-tip-reference" title="Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E. M., Turnbull, D. M. <strong>Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.</strong> Ann. Neurol. 50: 104-107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11456298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11456298</a>] [<a href="https://doi.org/10.1002/ana.1084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11456298">Taylor et al. (2001)</a> identified a heteroplasmic 10191T-C transition in the ND3 gene (S45P; <a href="#0001">516002.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11456298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with infantile encephalopathy and isolated complex I deficiency, 1 of whom had a phenotype consistent with Leigh syndrome (<a href="/entry/500017">500017</a>), <a href="#14" class="mim-tip-reference" title="McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. <strong>De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.</strong> Ann. Neurol. 55: 58-64, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14705112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14705112</a>] [<a href="https://doi.org/10.1002/ana.10787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14705112">McFarland et al. (2004)</a> identified a heteroplasmic 10158T-C transition in the MTND3 gene (<a href="#0003">516002.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14705112" 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="Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H.-H. M., Ryan, M. T., Thorburn, D. R. <strong>NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.</strong> J. Clin. Invest. 114: 837-845, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372108</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15372108[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/10.1172/JCI20683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372108">Kirby et al. (2004)</a> identified the 10158T-C mutation in 2 unrelated patients with isolated complex I deficiency, 1 of whom had a phenotype consistent with Leigh syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372108" 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="#22" class="mim-tip-reference" title="Sarzi, E., Brown, M. D., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. <strong>A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.</strong> Am. J. Med. Genet. 143A: 33-41, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17152068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17152068</a>] [<a href="https://doi.org/10.1002/ajmg.a.31565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17152068">Sarzi et al. (2007)</a> identified a 10197G-A transition (A47T; <a href="#0004">516002.0004</a>) in the MTND3 gene in 3 unrelated families with Leigh syndrome or dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17152068" 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>Parkinson Disease</em></strong></p><p>
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<a href="#26" class="mim-tip-reference" title="van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., and 15 others. <strong>Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.</strong> Am. J. Hum. Genet. 72: 804-811, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12618962[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/10.1086/373937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618962">Van der Walt et al. (2003)</a> genotyped 10 single-nucleotide polymorphisms that define the European mitochondrial DNA haplogroups in 609 white patients with Parkinson disease (<a href="/entry/556500">556500</a>) and 340 unaffected white control subjects. Overall, individuals classified as haplogroup J demonstrated a significant decrease in risk of Parkinson disease versus individuals carrying haplogroup H, the most common haplogroup. Furthermore, a specific SNP that defines these 2 haplogroups, 10398G (see <a href="#0002">516002.0002</a>), is strongly associated with this protective effect. The 10398G SNP causes a nonconservative amino acid change from threonine to alanine within the ND3 of complex I. After stratification by sex, this decrease in risk appeared stronger in women than in men. <a href="#26" class="mim-tip-reference" title="van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., and 15 others. <strong>Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.</strong> Am. J. Hum. Genet. 72: 804-811, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12618962[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/10.1086/373937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618962">Van der Walt et al. (2003)</a> concluded that ND3 may be an important factor in Parkinson disease susceptibility among white individuals and could help explain the role of complex I in Parkinson disease expression. <a href="#20" class="mim-tip-reference" title="Pyle, A., Foltynie, T., Tiangyou, W., Lambert, C., Keers, S. M., Allcock, L. M., Davison, J., Lewis, S. J., Perry, R. H., Barker, R., Burn, D. J., Chinnery, P. F. <strong>Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.</strong> Ann. Neurol. 57: 564-567, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15786469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15786469</a>] [<a href="https://doi.org/10.1002/ana.20417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15786469">Pyle et al. (2005)</a> noted that the 10398A-G polymorphism has been described on several other haplotypes (see <a href="#12" class="mim-tip-reference" title="Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. <strong>Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.</strong> Am. J. Hum. Genet. 70: 1152-1171, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 448 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11938495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11938495</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11938495[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/10.1086/339933" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11938495">Herrnstadt et al., 2002</a>), indicating that the 10398A-G polymorphism does not 'define' haplotypes J and K, as asserted by <a href="#26" class="mim-tip-reference" title="van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., and 15 others. <strong>Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.</strong> Am. J. Hum. Genet. 72: 804-811, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12618962[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/10.1086/373937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618962">van der Walt et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12618962+11938495+15786469" 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=516002[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1</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">rs267606890 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606890;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=rs267606890" 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=rs267606890" 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=RCV000010358 OR RCV000144010 OR RCV001542636 OR RCV002291212" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010358, RCV000144010, RCV001542636, RCV002291212" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010358...</a>
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<p><a href="#25" class="mim-tip-reference" title="Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E. M., Turnbull, D. M. <strong>Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.</strong> Ann. Neurol. 50: 104-107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11456298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11456298</a>] [<a href="https://doi.org/10.1002/ana.1084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11456298">Taylor et al. (2001)</a> reported a patient who had onset of migraine symptoms associated with flashing lights in his vision and right arm weakness at age 24 years. He subsequently developed myoclonus, seizures, cognitive decline, ataxia, peripheral neuropathy, eye movement abnormalities, and optic atrophy. Muscle biopsy showed a deficit (40% of controls) in complex I activity (<a href="/entry/252010">252010</a>), but no ragged-red fibers. A heteroplasmic 10191T-C transition in the ND3 gene was identified in his skeletal muscle (77%) and blood (14%), as well as in his mother (3% in blood) and 2 unaffected sibs (barely detectable in blood). The mutation was not present in 90 other samples. <a href="#25" class="mim-tip-reference" title="Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E. M., Turnbull, D. M. <strong>Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.</strong> Ann. Neurol. 50: 104-107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11456298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11456298</a>] [<a href="https://doi.org/10.1002/ana.1084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11456298">Taylor et al. (2001)</a> noted that the mutation changes a hydrophilic serine in codon 45 to a hydrophobic proline (S45P), which may affect the folding of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11456298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with infantile encephalopathy and complex I deficiency, <a href="#14" class="mim-tip-reference" title="McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. <strong>De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.</strong> Ann. Neurol. 55: 58-64, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14705112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14705112</a>] [<a href="https://doi.org/10.1002/ana.10787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14705112">McFarland et al. (2004)</a> identified the 10191T-C transition. From birth, he was lethargic with hypotonia, areflexia, and muscle atrophy. Micrognathia and talipes equinovarus were noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14705112" 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">rs2853826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2853826;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=rs2853826" 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=rs2853826" 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=RCV000010359 OR RCV000854647 OR RCV004713167" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010359, RCV000854647, RCV004713167" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010359...</a>
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<p><a href="#17" class="mim-tip-reference" title="Oliver, N. A., Greenberg, B. D., Wallace, D. C. <strong>Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.</strong> J. Biol. Chem. 258: 5834-5839, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6343397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6343397</a>]" pmid="6343397">Oliver et al. (1983)</a> reported a polymorphism at nucleotide 10398 that changed the penultimate amino acid from threonine to alanine. In a study of Europeans with Parkinson disease (<a href="/entry/556500">556500</a>) compared with controls, the presence of the 10398G allele was associated with the protective effect of haplogroup J or K. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6343397" 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>The role of mitochondria in causing diseases is largely attributed to its reactive oxygen species (ROS) production property. In the context of diabetes, ROS is suggested to trigger different forms of insulin resistance involving different mechanisms. The suggestive role of an mtDNA variant G10398A in increasing ROS production and the impaired response to oxidative stress due to the T16189C variant were studied by <a href="#5" class="mim-tip-reference" title="Bhat, A., Koul, A., Sharma, S., Rai, E., Bukhari, S. I. A., Dhar, M. K., Bamezai, R. N. K. <strong>The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study.</strong> Hum. Genet. 120: 821-826, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17066297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17066297</a>] [<a href="https://doi.org/10.1007/s00439-006-0272-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17066297">Bhat et al. (2007)</a> as genetic susceptibility factors in type 2 diabetes mellitus (see <a href="/entry/125853">125853</a>). In 2 North Indian population cohorts, a statistically significant association was observed for the 10398A allele, and analysis of the G10398A/T16189C haplotype demonstrated risk in both cohorts. The study suggested that 10398A and 16189C alleles provide susceptibility to T2DM independently as well as together. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17066297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1</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">rs199476117 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476117;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=rs199476117" 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=rs199476117" 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=RCV000010360 OR RCV000144009 OR RCV000224598 OR RCV001796716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010360, RCV000144009, RCV000224598, RCV001796716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010360...</a>
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<p>In 3 unrelated patients with infantile encephalopathy and isolated complex I deficiency (<a href="/entry/500014">500014</a>), <a href="#14" class="mim-tip-reference" title="McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. <strong>De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.</strong> Ann. Neurol. 55: 58-64, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14705112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14705112</a>] [<a href="https://doi.org/10.1002/ana.10787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14705112">McFarland et al. (2004)</a> identified a heteroplasmic 10158T-C transition in the MTND3 gene. One patient had a phenotype consistent with Leigh syndrome (<a href="/entry/500017">500017</a>), including increased blood and CSF lactate, delayed motor development, and bilateral thalamic lesions on MRI. The other 2 patients both had lactic acidosis in blood and CSF but one had hyperreflexia, clonus, and spastic quadriparesis, whereas the other had hypotonia and areflexia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14705112" 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="Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H.-H. M., Ryan, M. T., Thorburn, D. R. <strong>NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.</strong> J. Clin. Invest. 114: 837-845, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372108</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15372108[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/10.1172/JCI20683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372108">Kirby et al. (2004)</a> identified the 10158T-C mutation in 2 unrelated patients with isolated complex I deficiency. One of the patients had lethal infantile mitochondrial disease and died at age 6 months; biochemical analysis showed 1% residual complex I activity. The other patient had a phenotype consistent with Leigh syndrome and died at age 3 years, 9 months; residual complex I activity was 14%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372108" 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 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1</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">rs267606891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606891;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=rs267606891" 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=rs267606891" 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=RCV000010362 OR RCV000010363 OR RCV000144011 OR RCV000507278 OR RCV002247309 OR RCV002285008 OR RCV002291213 OR RCV004017234 OR RCV004767000" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010362, RCV000010363, RCV000144011, RCV000507278, RCV002247309, RCV002285008, RCV002291213, RCV004017234, RCV004767000" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010362...</a>
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<p>In affected members of 3 unrelated families with Leigh syndrome (<a href="/entry/500017">500017</a>) or dystonia, <a href="#22" class="mim-tip-reference" title="Sarzi, E., Brown, M. D., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. <strong>A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.</strong> Am. J. Med. Genet. 143A: 33-41, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17152068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17152068</a>] [<a href="https://doi.org/10.1002/ajmg.a.31565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17152068">Sarzi et al. (2007)</a> identified a 10197G-A transition in the MTND3 gene, resulting in an ala47-to-thr (A47T) substitution in a highly conserved part of the ND3 subunit. The mutation was found to be homoplasmic in the most severely affected patients (children), whereas the mutant load varied from 50% in the leukocytes of a healthy mother to 67% and 74%, respectively, in the 2 mildly affected mothers. <a href="#22" class="mim-tip-reference" title="Sarzi, E., Brown, M. D., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. <strong>A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.</strong> Am. J. Med. Genet. 143A: 33-41, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17152068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17152068</a>] [<a href="https://doi.org/10.1002/ajmg.a.31565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17152068">Sarzi et al. (2007)</a> concluded that 10197G-A is a common mtDNA mutation responsible for Leigh syndrome and dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17152068" 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="Chae, J. H., Lee, J. S., Kim, K. J., Hwang, Y. S., Bonilla, E., Tanji, K., Hirano, M. <strong>A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.</strong> Pediat. Res. 61: 622-624, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17413873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17413873</a>] [<a href="https://doi.org/10.1203/pdr.0b013e3180459f2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17413873">Chae et al. (2007)</a> identified the 10197G-A mutation in 3 Korean patients with Leigh syndrome due to complex I deficiency (<a href="/entry/500014">500014</a>). Two sibs had childhood-onset progressive generalized dystonia, whereas the third unrelated child had stroke-like episodes in infancy. All 3 had bilateral lesions in the basal ganglia. Muscle biopsies showed 98%, 86%, and 80% heteroplasmy, respectively, for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17413873" 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="#32" class="mim-tip-reference" title="Wang, K., Takahashi, Y., Gao, Z.-L., Wang, G.-X., Chen, X.-W., Goto, J., Lou, J.-N., Tsuji, S. <strong>Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.</strong> Neurogenetics 10: 337-345, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19458970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19458970</a>] [<a href="https://doi.org/10.1007/s10048-009-0194-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19458970">Wang et al. (2009)</a> identified a homoplasmic 10197G-A mutation in 6 affected members of a Chinese Han family with Leber optic atrophy and dystonia (<a href="/entry/500001">500001</a>). The mutation occurred on mitochondrial haplogroup D4b. The proband, who was most severely affected, developed an abnormal gait at age 5 years after a bout of diarrhea. At age 14 years, he had painless and progressive visual loss, and lost ambulation due to dystonia. There was no evidence of mental or psychomotor retardation. By the third decade, he was unable to stand or speak clearly. Neurologic exam showed generalized spastic dystonia involving the limbs, trunk, neck, and face, with diffuse muscle wasting. Brain MRI showed abnormal signals in the basal ganglia. Other family members had a similar, but less severe, disease course with spastic gait, dystonia, visual loss, and basal ganglia lesions. Nine additional family members with a homoplasmic mutation had sudden onset of painless vision loss due to optic atrophy between ages 14 and 30 years, but without other symptoms. A tenth patient had loss of vision and was found to have postural tremor, hyperreflexia, and unstable gait. Two unaffected family members also carried the homoplasmic mutation, suggesting incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19458970" 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="#Wallace1986" class="mim-tip-reference" title="Wallace, D. C. <strong>Mitotic segregation of mitochondrial DNAs in human cell hybrids and the expression of chloramphenicol resistance.</strong> Somat. Cell Molec. Genet. 12: 41-49, 1986.">Wallace (1986)</a>
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Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G.
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<strong>Sequence and organization of the human mitochondrial genome.</strong>
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Nature 290: 457-465, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7219534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7219534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7219534" 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/10.1038/290457a0" target="_blank">Full Text</a>]
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<strong>Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Complementation of the primary structure of the complex.</strong>
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FEBS Lett. 313: 80, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1426273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1426273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1426273" 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/10.1016/0014-5793(92)81189-s" target="_blank">Full Text</a>]
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<strong>Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase.</strong>
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Cold Spring Harbor Symp. Quant. Biol. 51: 103-114, 1986.
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[<a href="https://doi.org/10.1126/science.3764430" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.20417" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Ragan1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ragan, C. I.
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<strong>Structure of NADH-ubiquinone reductase (Complex I).</strong>
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<a id="Sarzi2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sarzi, E., Brown, M. D., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V.
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<strong>A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.31565" target="_blank">Full Text</a>]
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<a id="Shoffner1995" class="mim-anchor"></a>
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<p class="mim-text-font">
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<a id="Taylor2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E. M., Turnbull, D. M.
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<strong>Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.</strong>
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[<a href="https://doi.org/10.1002/ana.1084" target="_blank">Full Text</a>]
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<a id="van der Walt2003" class="mim-anchor"></a>
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van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., and 15 others.
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[<a href="https://doi.org/10.1086/373937" target="_blank">Full Text</a>]
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<a id="Walker1992" class="mim-anchor"></a>
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Walker, J. E., Arizmendi, J. M., Dupuis, A., Fearnley, I. M., Finel, M., Medd, S. M., Pilkington, S. J., Runswick, M. J., Skehel, J. M.
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[<a href="https://doi.org/10.1016/0022-2836(92)91052-q" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Wallace1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallace, D. C., Lott, M. T., Torrini, A., Brown, M. D., Shoffner, J. M.
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<strong>Report of the committee on human mitochondrial DNA.In: Cuticchia, A. J.; Pearson, P. L. (eds.) : Human Gene Mapping, 1993: A Compendium.</strong>
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<a id="Wallace1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallace, D. C., Oliver, N. A., Blanc, H., Adams, C. W.
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<strong>A system to study human mitochondrial genes: application to chloramphenicol resistance.In: Slonimski, P.; Borst, P.; Attardi, G. (eds.) : Mitochondrial Genes.</strong>
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<a id="Wallace1986" class="mim-anchor"></a>
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<div class="">
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Wallace, D. C., Yang, J., Ye, J., Lott, M. T., Oliver, N. A., McCarthy, J.
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<strong>Computer prediction of peptide maps: Assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.</strong>
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Am. J. Hum. Genet. 38: 461, 1986.
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<a id="31" class="mim-anchor"></a>
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<a id="Wallace1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallace, D. C.
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<strong>Mitotic segregation of mitochondrial DNAs in human cell hybrids and the expression of chloramphenicol resistance.</strong>
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Somat. Cell Molec. Genet. 12: 41-49, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3003930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01560726" target="_blank">Full Text</a>]
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<a id="Wang2009" class="mim-anchor"></a>
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Wang, K., Takahashi, Y., Gao, Z.-L., Wang, G.-X., Chen, X.-W., Goto, J., Lou, J.-N., Tsuji, S.
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<strong>Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.</strong>
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Neurogenetics 10: 337-345, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19458970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19458970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19458970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-009-0194-0" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Yatscoff1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yatscoff, R. W., Goldstein, S., Freeman, K. B.
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<strong>Conservation of genes coding for proteins synthesized in human mitochondria.</strong>
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Somat. Cell Genet. 4: 633-645, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/741350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">741350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=741350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01543155" target="_blank">Full Text</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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Cassandra L. Kniffin - updated : 12/13/2018
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Cassandra L. Kniffin - updated : 12/11/2009<br>Cassandra L. Kniffin - updated : 9/28/2009<br>Victor A. McKusick - updated : 9/18/2007<br>Marla J. F. O'Neill - updated : 6/22/2007<br>Cassandra L. Kniffin - updated : 8/29/2005<br>Cassandra L. Kniffin - updated : 6/29/2005<br>Cassandra L. Kniffin - updated : 6/2/2004<br>Ada Hamosh - updated : 5/9/2003<br>Cassandra L. Kniffin - updated : 1/28/2003<br>Douglas C. Wallace - updated : 4/6/1994
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Victor A. McKusick : 3/2/1993
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carol : 05/15/2024
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alopez : 08/11/2023<br>carol : 12/13/2018<br>carol : 07/08/2016<br>terry : 7/6/2012<br>terry : 8/4/2011<br>terry : 11/3/2010<br>carol : 1/19/2010<br>wwang : 12/28/2009<br>ckniffin : 12/11/2009<br>wwang : 10/14/2009<br>ckniffin : 9/28/2009<br>terry : 8/26/2008<br>alopez : 9/19/2007<br>terry : 9/18/2007<br>wwang : 6/26/2007<br>terry : 6/22/2007<br>carol : 9/21/2005<br>ckniffin : 8/29/2005<br>ckniffin : 6/29/2005<br>tkritzer : 6/3/2004<br>ckniffin : 6/2/2004<br>cwells : 5/12/2003<br>terry : 5/9/2003<br>tkritzer : 2/6/2003<br>tkritzer : 2/3/2003<br>ckniffin : 1/28/2003<br>dholmes : 4/17/1998<br>terry : 1/21/1997<br>mark : 4/9/1996<br>mark : 6/19/1995<br>pfoster : 11/3/1994<br>davew : 7/21/1994<br>mimadm : 5/17/1994<br>carol : 5/17/1993
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<strong>*</strong> 516002
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COMPLEX I, SUBUNIT ND3; MTND3
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NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3<br />
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NADH DEHYDROGENASE, SUBUNIT 3
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MT-ND3</em></strong>
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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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<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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<span class="mim-text-font">
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<p>Subunit 3 is 1 of 7 mitochondrial DNA (mtDNA) encoded subunits (MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6) included among the approximately 41 polypeptides of respiratory Complex I (NADH:ubiquinone oxidoreductase, EC 1.6.5.3) (Shoffner and Wallace, 1995; Arizmendi et al., 1992; Walker et al., 1992; Anderson et al., 1981; Attardi et al., 1986; Chomyn et al. (1985, 1986); Wallace et al., 1986; Oliver and Wallace, 1982; Wallace et al., 1994). Complex I accepts electron from NADH, transfers them to ubiquinone (Coenzyme Q10) and uses the energy released to pump protons across the mitochondrial inner membrane. Complex I is more fully described under 516000. MTND3 has been localized to the hydrophobic protein fragment of the Complex (Ragan, 1987). </p>
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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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<span class="mim-text-font">
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<p>MTND3 is encoded by the guanine-rich heavy (H) strand of the mtDNA and located between nucleotide pairs (nps) 10059 and 10404 (Anderson et al., 1981; Wallace et al., 1994). It is maternally inherited along with the mtDNA (Giles et al., 1980; Case and Wallace, 1981). </p>
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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>The MTND3 gene encompasses 345 nps of continuous coding sequence. It contains no introns, begins with the AUG methionine codon, and ends with the U of the UAA stop codon (Anderson et al., 1981; Ojala et al., 1981; Montoya et al., 1981). It is transcribed as a part of the polycistronic H-strand transcript, flanked by the tRNA(Gly) and tRNA(Arg) transcripts. These tRNAs are cleaved from the RNA freeing transcript 17, the MTND3 mRNA. The mRNA is then polyadenylated completing the termination codon (Anderson et al., 1981; Ojala et al., 1981; Attardi et al., 1982). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The predicted polypeptide has a molecular weight of 13.2 kD (Anderson et al., 1981; Wallace et al., 1994). However, its apparent MW on SDS-polyacrylamide gel (PAGE) using Tris-glycine buffer is 13.5 kD (Oliver et al., 1984; Oliver and Wallace, 1982; Wallace et al., 1986) whereas on SDS-PAGE using urea-phosphate buffer it is 6 kD (Chomyn et al., 1983). </p>
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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>Several restriction site polymorphisms have been identified at the following nucleotide position for the indicated enzymes (where '+' = site gain, '-' = site loss relative to the reference sequence, Anderson et al., 1981): Dde I:+10394; Hae III:, +10097, -10364; Hha I: +10066; HinfI:-10256; Mbo I: -10254; Taq I: +10084, -10180, +10252 (Wallace et al., 1994). </p><p>A prominent polypeptide polymorphism has been identified in MTND3 from certain African-derived mtDNAs including that of HeLa cells (Yatscoff et al., 1978; Oliver and Wallace, 1982; Spinner and King, 1986; Wallace et al., 1982; Wallace et al., 1982). The polymorphism is the product of an A to G transition of np 10086, which changes an asparagine to an aspartate (N10D), placing a negatively charged amino acid within a stretch of 30 uncharged amino acids (Oliver et al., 1983). A second polymorphism at np 10398 (516002.0002) changes the penultimate amino acid from threonine to alanine (Oliver et al., 1983). </p><p><strong><em>Mitochondrial Complex I Deficiency, Mitochondrial Type 1</em></strong></p><p>
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In a patient with mitochondrial complex I deficiency (500014), Taylor et al. (2001) identified a heteroplasmic 10191T-C transition in the ND3 gene (S45P; 516002.0001). </p><p>In 3 unrelated patients with infantile encephalopathy and isolated complex I deficiency, 1 of whom had a phenotype consistent with Leigh syndrome (500017), McFarland et al. (2004) identified a heteroplasmic 10158T-C transition in the MTND3 gene (516002.0003). </p><p>Kirby et al. (2004) identified the 10158T-C mutation in 2 unrelated patients with isolated complex I deficiency, 1 of whom had a phenotype consistent with Leigh syndrome. </p><p>Sarzi et al. (2007) identified a 10197G-A transition (A47T; 516002.0004) in the MTND3 gene in 3 unrelated families with Leigh syndrome or dystonia. </p><p><strong><em>Parkinson Disease</em></strong></p><p>
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Van der Walt et al. (2003) genotyped 10 single-nucleotide polymorphisms that define the European mitochondrial DNA haplogroups in 609 white patients with Parkinson disease (556500) and 340 unaffected white control subjects. Overall, individuals classified as haplogroup J demonstrated a significant decrease in risk of Parkinson disease versus individuals carrying haplogroup H, the most common haplogroup. Furthermore, a specific SNP that defines these 2 haplogroups, 10398G (see 516002.0002), is strongly associated with this protective effect. The 10398G SNP causes a nonconservative amino acid change from threonine to alanine within the ND3 of complex I. After stratification by sex, this decrease in risk appeared stronger in women than in men. Van der Walt et al. (2003) concluded that ND3 may be an important factor in Parkinson disease susceptibility among white individuals and could help explain the role of complex I in Parkinson disease expression. Pyle et al. (2005) noted that the 10398A-G polymorphism has been described on several other haplotypes (see Herrnstadt et al., 2002), indicating that the 10398A-G polymorphism does not 'define' haplotypes J and K, as asserted by van der Walt et al. (2003). </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 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1</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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MTND3, SER45PRO
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<br />
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SNP: rs267606890,
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ClinVar: RCV000010358, RCV000144010, RCV001542636, RCV002291212
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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>Taylor et al. (2001) reported a patient who had onset of migraine symptoms associated with flashing lights in his vision and right arm weakness at age 24 years. He subsequently developed myoclonus, seizures, cognitive decline, ataxia, peripheral neuropathy, eye movement abnormalities, and optic atrophy. Muscle biopsy showed a deficit (40% of controls) in complex I activity (252010), but no ragged-red fibers. A heteroplasmic 10191T-C transition in the ND3 gene was identified in his skeletal muscle (77%) and blood (14%), as well as in his mother (3% in blood) and 2 unaffected sibs (barely detectable in blood). The mutation was not present in 90 other samples. Taylor et al. (2001) noted that the mutation changes a hydrophilic serine in codon 45 to a hydrophobic proline (S45P), which may affect the folding of the protein. </p><p>In a patient with infantile encephalopathy and complex I deficiency, McFarland et al. (2004) identified the 10191T-C transition. From birth, he was lethargic with hypotonia, areflexia, and muscle atrophy. Micrognathia and talipes equinovarus were noted. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PARKINSON DISEASE, RESISTANCE TO</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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MTND3, 10398A-G
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<br />
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SNP: rs2853826,
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ClinVar: RCV000010359, RCV000854647, RCV004713167
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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>Oliver et al. (1983) reported a polymorphism at nucleotide 10398 that changed the penultimate amino acid from threonine to alanine. In a study of Europeans with Parkinson disease (556500) compared with controls, the presence of the 10398G allele was associated with the protective effect of haplogroup J or K. </p><p>The role of mitochondria in causing diseases is largely attributed to its reactive oxygen species (ROS) production property. In the context of diabetes, ROS is suggested to trigger different forms of insulin resistance involving different mechanisms. The suggestive role of an mtDNA variant G10398A in increasing ROS production and the impaired response to oxidative stress due to the T16189C variant were studied by Bhat et al. (2007) as genetic susceptibility factors in type 2 diabetes mellitus (see 125853). In 2 North Indian population cohorts, a statistically significant association was observed for the 10398A allele, and analysis of the G10398A/T16189C haplotype demonstrated risk in both cohorts. The study suggested that 10398A and 16189C alleles provide susceptibility to T2DM independently as well as together. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1</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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MTND3, 10158T-C
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<br />
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SNP: rs199476117,
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ClinVar: RCV000010360, RCV000144009, RCV000224598, RCV001796716
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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 3 unrelated patients with infantile encephalopathy and isolated complex I deficiency (500014), McFarland et al. (2004) identified a heteroplasmic 10158T-C transition in the MTND3 gene. One patient had a phenotype consistent with Leigh syndrome (500017), including increased blood and CSF lactate, delayed motor development, and bilateral thalamic lesions on MRI. The other 2 patients both had lactic acidosis in blood and CSF but one had hyperreflexia, clonus, and spastic quadriparesis, whereas the other had hypotonia and areflexia. </p><p>Kirby et al. (2004) identified the 10158T-C mutation in 2 unrelated patients with isolated complex I deficiency. One of the patients had lethal infantile mitochondrial disease and died at age 6 months; biochemical analysis showed 1% residual complex I activity. The other patient had a phenotype consistent with Leigh syndrome and died at age 3 years, 9 months; residual complex I activity was 14%. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1</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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LEBER OPTIC ATROPHY AND DYSTONIA, INCLUDED
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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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MTND3, 10197G-A, ALA47THR
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<br />
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SNP: rs267606891,
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ClinVar: RCV000010362, RCV000010363, RCV000144011, RCV000507278, RCV002247309, RCV002285008, RCV002291213, RCV004017234, RCV004767000
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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 affected members of 3 unrelated families with Leigh syndrome (500017) or dystonia, Sarzi et al. (2007) identified a 10197G-A transition in the MTND3 gene, resulting in an ala47-to-thr (A47T) substitution in a highly conserved part of the ND3 subunit. The mutation was found to be homoplasmic in the most severely affected patients (children), whereas the mutant load varied from 50% in the leukocytes of a healthy mother to 67% and 74%, respectively, in the 2 mildly affected mothers. Sarzi et al. (2007) concluded that 10197G-A is a common mtDNA mutation responsible for Leigh syndrome and dystonia. </p><p>Chae et al. (2007) identified the 10197G-A mutation in 3 Korean patients with Leigh syndrome due to complex I deficiency (500014). Two sibs had childhood-onset progressive generalized dystonia, whereas the third unrelated child had stroke-like episodes in infancy. All 3 had bilateral lesions in the basal ganglia. Muscle biopsies showed 98%, 86%, and 80% heteroplasmy, respectively, for the mutation. </p><p>Wang et al. (2009) identified a homoplasmic 10197G-A mutation in 6 affected members of a Chinese Han family with Leber optic atrophy and dystonia (500001). The mutation occurred on mitochondrial haplogroup D4b. The proband, who was most severely affected, developed an abnormal gait at age 5 years after a bout of diarrhea. At age 14 years, he had painless and progressive visual loss, and lost ambulation due to dystonia. There was no evidence of mental or psychomotor retardation. By the third decade, he was unable to stand or speak clearly. Neurologic exam showed generalized spastic dystonia involving the limbs, trunk, neck, and face, with diffuse muscle wasting. Brain MRI showed abnormal signals in the basal ganglia. Other family members had a similar, but less severe, disease course with spastic gait, dystonia, visual loss, and basal ganglia lesions. Nine additional family members with a homoplasmic mutation had sudden onset of painless vision loss due to optic atrophy between ages 14 and 30 years, but without other symptoms. A tenth patient had loss of vision and was found to have postural tremor, hyperreflexia, and unstable gait. Two unaffected family members also carried the homoplasmic mutation, suggesting incomplete penetrance. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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|
Wallace (1986)
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., Young, I. G.
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|
<strong>Sequence and organization of the human mitochondrial genome.</strong>
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Nature 290: 457-465, 1981.
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[PubMed: 7219534]
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[Full Text: https://doi.org/10.1038/290457a0]
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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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Arizmendi, J. M., Skehel, J. M., Runswick, M. J., Fearnley, I. M., Walker, J. E.
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<strong>Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Complementation of the primary structure of the complex.</strong>
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FEBS Lett. 313: 80, 1992.
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[PubMed: 1426273]
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[Full Text: https://doi.org/10.1016/0014-5793(92)81189-s]
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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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Attardi, G., Chomyn, A., Doolittle, R. F., Mariottini, P., Ragan, C. I.
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<strong>Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase.</strong>
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Cold Spring Harbor Symp. Quant. Biol. 51: 103-114, 1986.
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[PubMed: 3472707]
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[Full Text: https://doi.org/10.1101/sqb.1986.051.01.013]
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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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Attardi, G., Chomyn, A., Montoya, J., Ojala, D.
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<strong>Identification and mapping of human mitochondrial genes.</strong>
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Cytogenet. Cell Genet. 32: 85-98, 1982.
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[PubMed: 7140372]
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[Full Text: https://doi.org/10.1159/000131689]
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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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Bhat, A., Koul, A., Sharma, S., Rai, E., Bukhari, S. I. A., Dhar, M. K., Bamezai, R. N. K.
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<strong>The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study.</strong>
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Hum. Genet. 120: 821-826, 2007.
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[PubMed: 17066297]
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[Full Text: https://doi.org/10.1007/s00439-006-0272-4]
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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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Case, J. T., Wallace, D. C.
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<strong>Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.</strong>
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Somat. Cell Genet. 7: 103-108, 1981.
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[PubMed: 6261411]
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[Full Text: https://doi.org/10.1007/BF01544751]
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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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Chae, J. H., Lee, J. S., Kim, K. J., Hwang, Y. S., Bonilla, E., Tanji, K., Hirano, M.
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<strong>A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.</strong>
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Pediat. Res. 61: 622-624, 2007.
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