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Entry
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- *516050 - CYTOCHROME c OXIDASE III; MTCO3
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- OMIM
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<p>
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<span class="h4">*516050</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#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/516050">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="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 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 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=ENSG00000198938;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-CO3" 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=4514" 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=516050" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=ENSG00000198938;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=516050" 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 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-CO3" 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/6648058,194303444,251831113" 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/P00414" 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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</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=4514" 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=ENSG00000198938;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-CO3" 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-CO3" 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+4514" 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-CO3" 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:4514" 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/4514" 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:7422" 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=516050[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><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=516050[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/ENSG00000198938" 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-CO3" 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-CO3" 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-CO3&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/PA31229" 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:7422" 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/FBgn0013676.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:102502" 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-CO3#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:102502" 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/4514/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=4514" 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://reactome.org/content/query?q=MT-CO3&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 58610003, 67434000<br />
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<strong>ICD10CM:</strong> H47.22<br />
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">ICD+</a>
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<span class="text-danger"><strong>*</strong></span>
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516050
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CYTOCHROME c OXIDASE III; MTCO3
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COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III; COIII
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-CO3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-CO3</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>Cytochrome c oxidase subunit III (COIII or MTCO3) is 1 of 3 mitochondrial DNA (mtDNA) encoded subunits (MTCO1, MTCO2, MTCO3) of respiratory Complex IV. Complex IV is located within the mitochondrial inner membrane and is the third and final enzyme of the electron transport chain of mitochondrial oxidative phosphorylation. It collects electrons from ferrocytochrome c (reduced cytochrome c) and transfers then to oxygen to give water. The energy released is to transport protons across the mitochondrial inner membrane. Complex IV is composed of 13 polypeptides. Subunits I, II, and III (MTCO1, MTCO2, MTCO3) are encoded by the mtDNA while subunits VI, Va, Vb, VIa, VIb, VIc, VIIa, VIIb, VIIc, and VIII are nuclear encoded (<a href="#15" class="mim-tip-reference" title="Kadenbach, B., Jarausch, J., Hartmann, R., Merle, P. <strong>Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.</strong> Anal. Biochem. 129: 517-521, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6303162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6303162</a>] [<a href="https://doi.org/10.1016/0003-2697(83)90586-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6303162">Kadenbach et al., 1983</a>; <a href="#3" class="mim-tip-reference" title="Capaldi, R. A. <strong>Structure and function of cytochrome c oxidase.</strong> Annu. Rev. Biochem. 59: 569-596, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2165384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2165384</a>] [<a href="https://doi.org/10.1146/annurev.bi.59.070190.003033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2165384">Capaldi, 1990</a>; <a href="#26" 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>). Subunits VIa, VIIa, and VIII have systemic as well as heart muscle isoforms (<a href="#3" class="mim-tip-reference" title="Capaldi, R. A. <strong>Structure and function of cytochrome c oxidase.</strong> Annu. Rev. Biochem. 59: 569-596, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2165384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2165384</a>] [<a href="https://doi.org/10.1146/annurev.bi.59.070190.003033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2165384">Capaldi, 1990</a>; <a href="#17" class="mim-tip-reference" title="Lomax, M. I., Grossman, L. I. <strong>Tissue-specific genes for respiratory proteins.</strong> Trends Biochem. Sci. 14: 501-503, 1989. Note: Erratum: Trends Biochem. Sci. 15: 217 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2560276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2560276</a>] [<a href="https://doi.org/10.1016/0968-0004(89)90185-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2560276">Lomax and Grossman, 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2560276+6303162+2165384" 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>Subunit III is a highly conserved and ubiquitous subunit of Complex III, yet its function remains unclear. The subunit is an integral membrane protein and it binds dicyclohexylcarbodiimide (DCCD) at glutamate 90, suggesting that it might participate in proton translocation (<a href="#23" class="mim-tip-reference" title="Prochaska, L. J., Bisson, R., Capaldi, R. A., Steffens, G. C., Buse, G. <strong>Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide.</strong> Biochim. Biophys. Acta 637: 360-373, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6271198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6271198</a>] [<a href="https://doi.org/10.1016/0005-2728(81)90175-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6271198">Prochaska et al., 1981</a>; <a href="#27" class="mim-tip-reference" title="Suzuki, H., Hosokawa, Y., Toda, H., Nishikimi, M., Ozawa, T. <strong>Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III.</strong> Biochem. Biophys. Res. Commun. 156: 987-994, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3056408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3056408</a>] [<a href="https://doi.org/10.1016/s0006-291x(88)80941-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3056408">Suzuki et al., 1988</a>). However, more recent evidence implicates the binuclear center of MTCO1 in proton transport (<a href="#24" class="mim-tip-reference" title="Rousseau, D. L., Ching, Y., Wang, J. <strong>Proton translocation in cytochrome c oxidase: redox linkage through proximal ligand exchange on cytochrome a3.</strong> J. Bioenerg. Biomembr. 25: 165-176, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8389749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8389749</a>] [<a href="https://doi.org/10.1007/BF00762858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8389749">Rousseau et al., 1993</a>; <a href="#11" class="mim-tip-reference" title="Hosler, J. P., Ferguson-Miller, S., Calhoun, M. W., Thomas, J. W., Hill, J., Lemieux, L., Ma, J., Georgiou, C., Fetter, J., Shapleigh, J., Tecklenburg, M. M. J., Babcock, G. T., Gennis, R. B. <strong>Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome b0.</strong> J. Bioenerg. Biomembr. 25: 121-136, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8389745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8389745</a>] [<a href="https://doi.org/10.1007/BF00762854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8389745">Hosler et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8389749+8389745+3056408+6271198" 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>MTCO3 is encoded by the guanine-rich heavy (H) strand of the mtDNA located between nucleotide pairs (nps) 9207 and 9990 (<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="#30" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torroni, A., Brown, M. D., Shoffner, J. M. <strong>Mitochondrial DNA committee report.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="#6" 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="#4" 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 MTCO3 gene encompasses 783 nps of continuous mtDNA sequence, lacking introns and encoding a single polypeptide. The mRNA begins with the AUG start codon and ends with the U of the UAA stop codon. This transcript is transcribed as part of the H-strand polycistronic transcript, flanked by the MTATP6 gene on the 5-prime end and tRNA on the 3-prime end. Cleavage at tRNA , followed by polyadenylation completes the termination codon (<a href="#19" 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="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7219536" 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>Cleavage at the 5-prime end occurs between the two As of the MTATP6 termination codon ACA TA //A UG ACC (ThrTerMetThr) creating transcript 15, the MTCO3 mRNA (<a href="#18" 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>; <a href="#19" 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="#2" 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>). This is the only instance in which 2 separate transcripts, transcript 14 for MTATP8-MTATP6 and transcript 15 for MTCO3, are not separated by a tRNA. Hence, they must be processed by a separate system. If the 14+15 transcript were not cleaved, then MTATP6 would be translated, but MTCO3 might not be translated since its initiation codon overlaps the MTATP6 termination codon. Since the ratio between MTATP6 and MTCO3 can vary between patient and control cell mitochondria, it is possible that the cleavage of transcript 14 + 15 provides a mechanism for modulating the biogenesis of the electron transport chain relative to the ATP synthase (<a href="#31" 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: 461-481, 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="https://pubmed.ncbi.nlm.nih.gov/?term=7140372+7219536+3518425+7219535" 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 molecular weight (MW) of MTCO3 is 30 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="#30" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torroni, A., Brown, M. D., Shoffner, J. M. <strong>Mitochondrial DNA committee report.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 gels (PAGE) is 22.5 kD using Tris-glycine buffer (<a href="#20" 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="#21" 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="#31" 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: 461-481, 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 it is 18 kD when using urea-phosphate buffer (<a href="#5" class="mim-tip-reference" title="Ching, E., Attardi, G. <strong>High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.</strong> Biochemistry 21: 3188-3195, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6285960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6285960</a>] [<a href="https://doi.org/10.1021/bi00256a024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6285960">Ching and Attardi, 1982</a>; <a href="#8" class="mim-tip-reference" title="Hare, J. F., Ching, E., Attardi, G. <strong>Isolation, subunit composition and site of synthesis of human cytochrome c oxidase.</strong> Biochemistry 19: 2023-2030, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6246917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6246917</a>] [<a href="https://doi.org/10.1021/bi00551a003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6246917">Hare et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6285960+7219534+6438810+3518425+6955589+6246917" 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>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>): Alu I: +9299, +9504, -9644; Ava II: +9589; Dde I: -9272, -9500, -9641; Hae II: +9326; Hae III: +9209, +9253, -9266, -9294, -9342, +9386, -9553, +9714, -9953; Hha I: +9327, -9380; HinfI: +9683, -9753, +9820, +9859, +9984; Mbo I: +9942; Rsa I: +9429, -9746, +9926; Taq I: -9751 (<a href="#30" class="mim-tip-reference" title="Wallace, D. C., Lott, M. T., Torroni, A., Brown, M. D., Shoffner, J. M. <strong>Mitochondrial DNA committee report.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>Some allelic variants for MTCO3 are associated with Leber hereditary optic neuropathy (LHON; <a href="/entry/535000">535000</a>): MTCO3*LHON9438A (<a href="#0001">516050.0001</a>) and MTCO3*LHON9804A (<a href="#0002">516050.0002</a>).</p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=516050[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606611 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606611;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=rs267606611" 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=rs267606611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This allele changes the highly conserved glycine at amino acid 78 to a serine (G78S). It was found in 5 independent patients, was homoplasmic, and was absent in 400 disease and normal controls (<a href="#13" class="mim-tip-reference" title="Johns, D. R., Neufeld, M. J. <strong>Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.</strong> Biochem. Biophys. Res. Commun. 196: 810-815, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240356</a>] [<a href="https://doi.org/10.1006/bbrc.1993.2321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8240356">Johns and Neufeld, 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240356" 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 the 9438 sequence variation was questioned when it was found to occur in apparently healthy African and Cuban persons (<a href="#12" class="mim-tip-reference" title="Howell, N. <strong>Primary LHON mutations: trying to separate 'fruyt' from 'chaf.'</strong> Clin. Neurosci. 2: 130-137, 1994."None>Howell, 1994</a>). <a href="#14" class="mim-tip-reference" title="Johns, D. R., Neufeld, M. J., Hedges, T. R., III. <strong>Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy.</strong> J. Neuro-ophthal. 14: 135-140, 1994."None>Johns et al. (1994)</a> described this mutation in 2 Cubans presenting with optic and peripheral neuropathy. <a href="#22" class="mim-tip-reference" title="Oostra, R.-J., Van den Bogert, C., Nijtmans, L. G. J., van Galen, M. J. M., Zwart, R., Bolhuis, P. A., Bleeker-Wagemakers, E. M. <strong>Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings. (Letter)</strong> Am. J. Hum. Genet. 57: 954-957, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573056</a>]" pmid="7573056">Oostra et al. (1995)</a> screened blood samples from 49 LHON pedigrees and from 38 isolated LHON probands for the presence of a 9438 mutation. They found the 9438 mutation in 2 of the 28 LHON pedigrees in which they previously found the 11778 mutation (<a href="/entry/516003#0001">516003.0001</a>). Both mutations were homoplasmic in the individuals tested. The 9438 mutation was found in none of the other LHON pedigrees--i.e., the 7 carrying the 3460 mutation (<a href="/entry/516000#0001">516000.0001</a>), the 11 carrying the 11484 mutation (<a href="/entry/516006#0001">516006.0001</a>), or the 3 carrying neither of these 2 mutations--nor in any of the isolated LHON probands. Most convincing arguments for the primary pathogenic importance of the 3460, 11778, and 14484 mutations are the apparent mutual exclusion in LHON pedigrees and the fact that these mutations have never been reported in normal controls. However, the 9438 mutation does not meet either of these criteria. <a href="#22" class="mim-tip-reference" title="Oostra, R.-J., Van den Bogert, C., Nijtmans, L. G. J., van Galen, M. J. M., Zwart, R., Bolhuis, P. A., Bleeker-Wagemakers, E. M. <strong>Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings. (Letter)</strong> Am. J. Hum. Genet. 57: 954-957, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573056</a>]" pmid="7573056">Oostra et al. (1995)</a> concluded that the 9438 mutation is neither primarily nor secondarily involved in the pathogenesis of LHON. In pedigrees that present this mutation in the absence of 1 of the 3 known primary mutations, it is reasonable, in their view, to assume the presence of another primary mutation, the location of which remains to be discovered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 LEBER OPTIC ATROPHY</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">rs200613617 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200613617;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=rs200613617" 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=rs200613617" 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=RCV000010287 OR RCV000756352 OR RCV000854582 OR RCV001196020 OR RCV004017233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010287, RCV000756352, RCV000854582, RCV001196020, RCV004017233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010287...</a>
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<p>This allele changes the highly conserved alanine at amino acid 200 to a threonine (A200T). It was present in 3 independent patients, was homoplasmic, and was not found in 400 disease and normal controls (<a href="#13" class="mim-tip-reference" title="Johns, D. R., Neufeld, M. J. <strong>Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.</strong> Biochem. Biophys. Res. Commun. 196: 810-815, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240356</a>] [<a href="https://doi.org/10.1006/bbrc.1993.2321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8240356">Johns and Neufeld, 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240356" 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 IV DEFICIENCY</strong>
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MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606612 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606612;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=rs267606612" 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=rs267606612" 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=RCV000010289 OR RCV000010290 OR RCV003985255" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010289, RCV000010290, RCV003985255" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010289...</a>
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<p><a href="#16" class="mim-tip-reference" title="Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S. W., Penn, A. M. W., Buist, N. R. M., Kennaway, N. G. <strong>A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.</strong> Nature Genet. 12: 410-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630495</a>] [<a href="https://doi.org/10.1038/ng0496-410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630495">Keightley et al. (1996)</a> reported what was considered to be the first case of isolated COX deficiency (<a href="/entry/220110">220110</a>) to be defined at the molecular level. Two episodes of muscle cramps and myoglobinuria, the first precipitated by a viral illness, the second by prolonged exercise, prompted their investigation of a previously normal 15-year-old white female. Both episodes were associated with decreased caloric intake. Later, 2 further episodes occurred during which creatine kinase levels rose to 17,000-44,000 I.U. (normal = less than 170 I.U.). Muscle histochemistry showed type 1 fiber predominance, many ragged-red fibers which stained heavily for succinate dehydrogenase (SDH) activity, and a high proportion (64%) of COX-negative fibers. On electron microscopy, scattered areas showed increased numbers of mitochondria, some enlarged and irregular, with disordered cristae. They identified a 15-bp microdeletion leading to loss of 5 amino acids, in a highly conserved region of the MTCO3 gene. Mutant DNA comprised 92% of mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibers showed significantly higher proportions of mutant mtDNA in COX-negative than in COX-positive fibers. The 15-bp deletion, which was an in-frame, removed 5 amino acids from the third hydrophobic domain of COX subunit III and included 2 highly conserved phenylalanine residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630495" 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 IV DEFICIENCY</strong>
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MTCO3, 9952G-A, TRP-TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606613;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=rs267606613" 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=rs267606613" 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=RCV000010291" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010291" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010291</a>
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<p><a href="#7" class="mim-tip-reference" title="Hanna, M. G., Nelson, I. P., Rahman, S., Lane, R. J. M., Land, J., Heales, S., Cooper, M. J., Schapira, A. H. V., Morgan-Hughes, J. A., Wood, N. W. <strong>Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.</strong> Am. J. Hum. Genet. 63: 29-36, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634511</a>] [<a href="https://doi.org/10.1086/301910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9634511">Hanna et al. (1998)</a> identified the first point mutation in mitochondrial DNA creating a stop codon in association with a human disorder. A 36-year-old woman experienced episodes of encephalopathy accompanied by lactic acidemia and had exercise intolerance and proximal myopathy. Histochemical analysis showed that 90% of muscle fibers exhibited decreased or absent cytochrome c oxidase (COX) activity (<a href="/entry/220110">220110</a>). Biochemical studies confirmed a severe isolated reduction in COX activity. Muscle immunocytochemistry revealed a pattern suggestive of a primary mtDNA defect in the COX-deficient fibers and was consistent with either reduced stability or impaired assembly of the holoenzyme. Sequence analysis identified a novel heteroplasmic G-to-A point mutation at nucleotide 9952 in the patient's skeletal muscle, which was not detected in her leukocyte mtDNA or in that of 120 healthy controls or 60 additional patients with mitochondrial disease. This point mutation was located in the 3-prime end of the MTCO3 gene and was predicted to result in the loss of the last 13 amino acids of the highly conserved C-terminal region of this subunit. It was not detected in mtDNA extracted from leukocytes, skeletal muscle, or myoblasts of the patient's mother or her 2 sons, indicating that this mutation was not maternally transmitted. Single-fiber PCR studies provided direct evidence for an association between this point mutation and COX deficiency and indicated that the proportion of mutant mtDNA required to induce COX deficiency is lower than that reported for tRNA-gene point mutations. The 9952G-A transition resulted in conversion of the wildtype TGA codon for tryptophan into a TAA stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MITOCHONDRIAL COMPLEX IV DEFICIENCY</strong>
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MTCO3, 1-BP INS, 9537C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606614 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606614;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=rs267606614" 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=rs267606614" 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=RCV000010292 OR RCV000144008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010292, RCV000144008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010292...</a>
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<p><a href="#29" class="mim-tip-reference" title="Tiranti, V., Corona, P., Greco, M., Taanman, J.-W., Carrara, F., Lamantea, E., Nijtmans, L., Uziel, G., Zeviani, M. <strong>A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.</strong> Hum. Molec. Genet. 9: 2733-2742, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11063732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11063732</a>] [<a href="https://doi.org/10.1093/hmg/9.18.2733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11063732">Tiranti et al. (2000)</a> reported an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she had developed progressive spastic paraparesis associated with ophthalmoparesis, moderate mental retardation, severe lactic acidosis, and Leigh-like lesions in the putamen. A profound, isolated defect of COX (<a href="/entry/220110">220110</a>) was found by histochemical and biochemical assays in skin and muscle. Sequence analysis of muscle mtDNA revealed a virtually homoplasmic frameshift mutation in the MTCO3 gene, due to the insertion of an extra C at nucleotide position 9537. Although the 9537insC did not impair transcription of MTCO3, no full-length COX subunit III protein was detected in mtDNA translation assays in vivo. Western blot analysis showed a reduction of specific crossreacting material and the accumulation of early-assembly intermediates of COX, whereas the fully assembled complex was absent. One of these intermediates had an electrophoretic mobility different from those seen in controls, suggesting the presence of a qualitative abnormality of COX assembly. Immunostaining with specific antibodies failed to detect the presence of several smaller subunits in the complex lacking COX subunit III, in spite of the demonstration that these subunits were present in the crude mitochondrial fraction of the patient's cultured fibroblasts. The authors proposed a role for COX subunit III in the incorporation and maintenance of smaller COX subunits within the complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11063732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MITOCHONDRIAL COMPLEX IV DEFICIENCY</strong>
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MTCO3, 9379G-A, TRP58TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606615;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=rs267606615" 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=rs267606615" 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=RCV000010293 OR RCV000854509 OR RCV001787028" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010293, RCV000854509, RCV001787028" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010293...</a>
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<p>In a patient presenting with a relatively mild, childhood onset, slowly progressive myopathy with exercise intolerance, lactic acidosis, delayed growth, and numerous ragged-red fibers, lipidosis, and severe cytochrome c oxidase deficiency (<a href="/entry/220110">220110</a>) in skeletal muscle, <a href="#10" class="mim-tip-reference" title="Horvath, R., Scharfe, C., Hoeltzenbein, M., Do, B. H., Schroder, C., Warzok, R., Vogelgesang, S., Lochmuller, H., Muller-Hocker, J., Gerbitz, K. D., Oefner, P. J., Jaksch, M. <strong>Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.</strong> J. Med. Genet. 39: 812-816, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414820</a>] [<a href="https://doi.org/10.1136/jmg.39.11.812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414820">Horvath et al. (2002)</a> identified a heteroplasmic 9379G-A transition in the MTCO3 gene, resulting in a trp58-to-ter (W58X) mutation. Absence of the mutation in leukocytes of the patient and in members of the family on the mother's side pointed to a sporadic origin. Immunohistochemistry showed a decreased steady state level of COX subunits II (<a href="/entry/516040">516040</a>) and III in skeletal muscle, whereas staining of the nuclear-encoded subunit IV (<a href="/entry/123864">123864</a>) was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 SEIZURES AND LACTIC ACIDOSIS</strong>
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MTCO3, 2-BP DEL, 9205TA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199476137 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476137;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=rs199476137" 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=rs199476137" 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=RCV000010281 OR RCV002247301 OR RCV002260586" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010281, RCV002247301, RCV002260586" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010281...</a>
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<p>This deletion occurs at the junction between the MTATP6 (<a href="/entry/516060">516060</a>) and MTCO3 genes. See <a href="/entry/516060#0007">516060.0007</a>, <a href="#25" class="mim-tip-reference" title="Seneca, S., Abramowicz, M., Lissens, W., Muller, M., Vamos, E., De Meirleir, L. <strong>A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.</strong> J. Inherit. Metab. Dis. 19: 115-118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8739943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8739943</a>] [<a href="https://doi.org/10.1007/BF01799407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8739943">Seneca et al. (1996)</a>, <a href="#28" class="mim-tip-reference" title="Temperley, R. J., Seneca, S. H., Tonska, K., Bartnik, E., Bindoff, L. A., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M. A. <strong>Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.</strong> Hum. Molec. Genet. 12: 2341-2348, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915481</a>] [<a href="https://doi.org/10.1093/hmg/ddg238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915481">Temperley et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8739943+12915481" 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 id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<strong>See Also:</strong>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<a href="#Hill1993" class="mim-tip-reference" title="Hill, B. C. <strong>The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.</strong> J. Bioenerg. Biomembr. 25: 115-120, 1993.">Hill (1993)</a>
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<strong>REFERENCES</strong>
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<a id="Anderson1981" class="mim-anchor"></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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<a id="Attardi1982" class="mim-anchor"></a>
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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: <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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7140372" 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/10.1159/000131689" target="_blank">Full Text</a>]
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<a id="Capaldi1990" class="mim-anchor"></a>
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Capaldi, R. A.
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<strong>Structure and function of cytochrome c oxidase.</strong>
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Annu. Rev. Biochem. 59: 569-596, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2165384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2165384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2165384" 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/10.1146/annurev.bi.59.070190.003033" target="_blank">Full Text</a>]
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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: <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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6261411" 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/BF01544751" target="_blank">Full Text</a>]
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Ching, E., Attardi, G.
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<strong>High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.</strong>
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Biochemistry 21: 3188-3195, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6285960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6285960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6285960" 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/10.1021/bi00256a024" target="_blank">Full Text</a>]
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<a id="Giles1980" class="mim-anchor"></a>
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Giles, R. E., Blanc, H., Cann, H. M., Wallace, D. C.
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<strong>Maternal inheritance of human mitochondrial DNA.</strong>
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Proc. Nat. Acad. Sci. 77: 6715-6719, 1980.
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[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6256757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.77.11.6715" target="_blank">Full Text</a>]
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<a id="Hanna1998" class="mim-anchor"></a>
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Hanna, M. G., Nelson, I. P., Rahman, S., Lane, R. J. M., Land, J., Heales, S., Cooper, M. J., Schapira, A. H. V., Morgan-Hughes, J. A., Wood, N. W.
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<strong>Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.</strong>
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Am. J. Hum. Genet. 63: 29-36, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634511" 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/10.1086/301910" target="_blank">Full Text</a>]
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Hare, J. F., Ching, E., Attardi, G.
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<strong>Isolation, subunit composition and site of synthesis of human cytochrome c oxidase.</strong>
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Biochemistry 19: 2023-2030, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6246917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6246917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6246917" 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/10.1021/bi00551a003" target="_blank">Full Text</a>]
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<a id="Hill1993" class="mim-anchor"></a>
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Hill, B. C.
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<strong>The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.</strong>
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J. Bioenerg. Biomembr. 25: 115-120, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8389744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8389744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8389744" 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/BF00762853" target="_blank">Full Text</a>]
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<a id="Horvath2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horvath, R., Scharfe, C., Hoeltzenbein, M., Do, B. H., Schroder, C., Warzok, R., Vogelgesang, S., Lochmuller, H., Muller-Hocker, J., Gerbitz, K. D., Oefner, P. J., Jaksch, M.
|
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<strong>Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.</strong>
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J. Med. Genet. 39: 812-816, 2002.
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Tiranti, V., Corona, P., Greco, M., Taanman, J.-W., Carrara, F., Lamantea, E., Nijtmans, L., Uziel, G., Zeviani, M.
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<strong>A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.</strong>
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Hum. Molec. Genet. 9: 2733-2742, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11063732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11063732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11063732" 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/10.1093/hmg/9.18.2733" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Wallace1994" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wallace, D. C., Lott, M. T., Torroni, A., Brown, M. D., Shoffner, J. M.
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<strong>Mitochondrial DNA committee report.In: Cuticchia, A. J.; Pearson, P. L. (eds.) : Human Gene Mapping, 1993: A Compendium.</strong>
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Baltimore: Johns Hopkins Univ. Press (pub.) 1994. Pp. 813-845.
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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: 461-481, 1986.
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[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>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3518425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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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George E. Tiller - updated : 9/9/2005
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<span class="mim-text-font">
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Victor A. McKusick - updated : 5/4/2004<br>George E. Tiller - updated : 1/26/2001<br>Victor A. McKusick - updated : 7/17/1998<br>Douglas C. Wallace - updated : 4/6/1994
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/2/1993
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 07/08/2016
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terry : 5/24/2011<br>carol : 3/3/2010<br>alopez : 8/25/2009<br>alopez : 10/19/2005<br>terry : 9/9/2005<br>terry : 4/6/2005<br>tkritzer : 5/21/2004<br>terry : 5/4/2004<br>ckniffin : 7/8/2003<br>mcapotos : 2/1/2001<br>mcapotos : 1/26/2001<br>terry : 8/20/1998<br>carol : 7/21/1998<br>terry : 7/17/1998<br>dholmes : 5/11/1998<br>dholmes : 5/11/1998<br>mark : 1/9/1998<br>terry : 1/6/1998<br>terry : 1/21/1997<br>mark : 4/9/1996<br>terry : 4/5/1996<br>mimman : 2/8/1996<br>mark : 1/19/1996<br>terry : 10/20/1995<br>mark : 6/19/1995<br>pfoster : 8/16/1994<br>mimadm : 5/17/1994<br>carol : 2/28/1994
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<strong>*</strong> 516050
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CYTOCHROME c OXIDASE III; MTCO3
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<em>Alternative titles; symbols</em>
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COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III; COIII
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<strong><em>HGNC Approved Gene Symbol: MT-CO3</em></strong>
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<strong>SNOMEDCT:</strong> 58610003, 67434000;
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<strong>ICD10CM:</strong> H47.22;
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<strong>Description</strong>
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<p>Cytochrome c oxidase subunit III (COIII or MTCO3) is 1 of 3 mitochondrial DNA (mtDNA) encoded subunits (MTCO1, MTCO2, MTCO3) of respiratory Complex IV. Complex IV is located within the mitochondrial inner membrane and is the third and final enzyme of the electron transport chain of mitochondrial oxidative phosphorylation. It collects electrons from ferrocytochrome c (reduced cytochrome c) and transfers then to oxygen to give water. The energy released is to transport protons across the mitochondrial inner membrane. Complex IV is composed of 13 polypeptides. Subunits I, II, and III (MTCO1, MTCO2, MTCO3) are encoded by the mtDNA while subunits VI, Va, Vb, VIa, VIb, VIc, VIIa, VIIb, VIIc, and VIII are nuclear encoded (Kadenbach et al., 1983; Capaldi, 1990; Shoffner and Wallace, 1995). Subunits VIa, VIIa, and VIII have systemic as well as heart muscle isoforms (Capaldi, 1990; Lomax and Grossman, 1989). </p><p>Subunit III is a highly conserved and ubiquitous subunit of Complex III, yet its function remains unclear. The subunit is an integral membrane protein and it binds dicyclohexylcarbodiimide (DCCD) at glutamate 90, suggesting that it might participate in proton translocation (Prochaska et al., 1981; Suzuki et al., 1988). However, more recent evidence implicates the binuclear center of MTCO1 in proton transport (Rousseau et al., 1993; Hosler et al., 1993). </p>
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<strong>Mapping</strong>
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<p>MTCO3 is encoded by the guanine-rich heavy (H) strand of the mtDNA located between nucleotide pairs (nps) 9207 and 9990 (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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<strong>Gene Structure</strong>
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<p>The MTCO3 gene encompasses 783 nps of continuous mtDNA sequence, lacking introns and encoding a single polypeptide. The mRNA begins with the AUG start codon and ends with the U of the UAA stop codon. This transcript is transcribed as part of the H-strand polycistronic transcript, flanked by the MTATP6 gene on the 5-prime end and tRNA on the 3-prime end. Cleavage at tRNA , followed by polyadenylation completes the termination codon (Ojala et al., 1981). </p><p>Cleavage at the 5-prime end occurs between the two As of the MTATP6 termination codon ACA TA //A UG ACC (ThrTerMetThr) creating transcript 15, the MTCO3 mRNA (Montoya et al., 1981; Ojala et al., 1981; Attardi et al., 1982). This is the only instance in which 2 separate transcripts, transcript 14 for MTATP8-MTATP6 and transcript 15 for MTCO3, are not separated by a tRNA. Hence, they must be processed by a separate system. If the 14+15 transcript were not cleaved, then MTATP6 would be translated, but MTCO3 might not be translated since its initiation codon overlaps the MTATP6 termination codon. Since the ratio between MTATP6 and MTCO3 can vary between patient and control cell mitochondria, it is possible that the cleavage of transcript 14 + 15 provides a mechanism for modulating the biogenesis of the electron transport chain relative to the ATP synthase (Wallace et al., 1986). </p>
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<strong>Gene Function</strong>
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<p>The predicted molecular weight (MW) of MTCO3 is 30 kD (Anderson et al., 1981; Wallace et al., 1994). However, its apparent MW on SDS-polyacrylamide gels (PAGE) is 22.5 kD using Tris-glycine buffer (Oliver et al., 1984; Oliver and Wallace, 1982; Wallace et al., 1986), whereas it is 18 kD when using urea-phosphate buffer (Ching and Attardi, 1982; Hare et al., 1980). </p>
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<strong>Molecular Genetics</strong>
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<p>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): Alu I: +9299, +9504, -9644; Ava II: +9589; Dde I: -9272, -9500, -9641; Hae II: +9326; Hae III: +9209, +9253, -9266, -9294, -9342, +9386, -9553, +9714, -9953; Hha I: +9327, -9380; HinfI: +9683, -9753, +9820, +9859, +9984; Mbo I: +9942; Rsa I: +9429, -9746, +9926; Taq I: -9751 (Wallace et al., 1994). </p><p>Some allelic variants for MTCO3 are associated with Leber hereditary optic neuropathy (LHON; 535000): MTCO3*LHON9438A (516050.0001) and MTCO3*LHON9804A (516050.0002).</p>
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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>7 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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<span class="mim-font">
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<strong>.0001 LEBER OPTIC ATROPHY</strong>
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MTCO3, LHON9438A
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<br />
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SNP: rs267606611,
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ClinVar: RCV000010286, RCV000854514
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<p>This allele changes the highly conserved glycine at amino acid 78 to a serine (G78S). It was found in 5 independent patients, was homoplasmic, and was absent in 400 disease and normal controls (Johns and Neufeld, 1993). </p><p>The role of the 9438 sequence variation was questioned when it was found to occur in apparently healthy African and Cuban persons (Howell, 1994). Johns et al. (1994) described this mutation in 2 Cubans presenting with optic and peripheral neuropathy. Oostra et al. (1995) screened blood samples from 49 LHON pedigrees and from 38 isolated LHON probands for the presence of a 9438 mutation. They found the 9438 mutation in 2 of the 28 LHON pedigrees in which they previously found the 11778 mutation (516003.0001). Both mutations were homoplasmic in the individuals tested. The 9438 mutation was found in none of the other LHON pedigrees--i.e., the 7 carrying the 3460 mutation (516000.0001), the 11 carrying the 11484 mutation (516006.0001), or the 3 carrying neither of these 2 mutations--nor in any of the isolated LHON probands. Most convincing arguments for the primary pathogenic importance of the 3460, 11778, and 14484 mutations are the apparent mutual exclusion in LHON pedigrees and the fact that these mutations have never been reported in normal controls. However, the 9438 mutation does not meet either of these criteria. Oostra et al. (1995) concluded that the 9438 mutation is neither primarily nor secondarily involved in the pathogenesis of LHON. In pedigrees that present this mutation in the absence of 1 of the 3 known primary mutations, it is reasonable, in their view, to assume the presence of another primary mutation, the location of which remains to be discovered. </p>
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<span class="mim-font">
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<strong>.0002 LEBER OPTIC ATROPHY</strong>
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</h4>
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MTCO3, LHON9804A
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SNP: rs200613617,
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ClinVar: RCV000010287, RCV000756352, RCV000854582, RCV001196020, RCV004017233
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<span class="mim-text-font">
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<p>This allele changes the highly conserved alanine at amino acid 200 to a threonine (A200T). It was present in 3 independent patients, was homoplasmic, and was not found in 400 disease and normal controls (Johns and Neufeld, 1993). </p>
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<h4>
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<span class="mim-font">
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<strong>.0003 MITOCHONDRIAL COMPLEX IV DEFICIENCY</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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MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
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MTCO3, 15-BP DEL
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SNP: rs267606612,
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ClinVar: RCV000010289, RCV000010290, RCV003985255
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</div>
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<div>
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<span class="mim-text-font">
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<p>Keightley et al. (1996) reported what was considered to be the first case of isolated COX deficiency (220110) to be defined at the molecular level. Two episodes of muscle cramps and myoglobinuria, the first precipitated by a viral illness, the second by prolonged exercise, prompted their investigation of a previously normal 15-year-old white female. Both episodes were associated with decreased caloric intake. Later, 2 further episodes occurred during which creatine kinase levels rose to 17,000-44,000 I.U. (normal = less than 170 I.U.). Muscle histochemistry showed type 1 fiber predominance, many ragged-red fibers which stained heavily for succinate dehydrogenase (SDH) activity, and a high proportion (64%) of COX-negative fibers. On electron microscopy, scattered areas showed increased numbers of mitochondria, some enlarged and irregular, with disordered cristae. They identified a 15-bp microdeletion leading to loss of 5 amino acids, in a highly conserved region of the MTCO3 gene. Mutant DNA comprised 92% of mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibers showed significantly higher proportions of mutant mtDNA in COX-negative than in COX-positive fibers. The 15-bp deletion, which was an in-frame, removed 5 amino acids from the third hydrophobic domain of COX subunit III and included 2 highly conserved phenylalanine residues. </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>.0004 MITOCHONDRIAL COMPLEX IV DEFICIENCY</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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MTCO3, 9952G-A, TRP-TER
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<br />
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SNP: rs267606613,
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ClinVar: RCV000010291
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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>Hanna et al. (1998) identified the first point mutation in mitochondrial DNA creating a stop codon in association with a human disorder. A 36-year-old woman experienced episodes of encephalopathy accompanied by lactic acidemia and had exercise intolerance and proximal myopathy. Histochemical analysis showed that 90% of muscle fibers exhibited decreased or absent cytochrome c oxidase (COX) activity (220110). Biochemical studies confirmed a severe isolated reduction in COX activity. Muscle immunocytochemistry revealed a pattern suggestive of a primary mtDNA defect in the COX-deficient fibers and was consistent with either reduced stability or impaired assembly of the holoenzyme. Sequence analysis identified a novel heteroplasmic G-to-A point mutation at nucleotide 9952 in the patient's skeletal muscle, which was not detected in her leukocyte mtDNA or in that of 120 healthy controls or 60 additional patients with mitochondrial disease. This point mutation was located in the 3-prime end of the MTCO3 gene and was predicted to result in the loss of the last 13 amino acids of the highly conserved C-terminal region of this subunit. It was not detected in mtDNA extracted from leukocytes, skeletal muscle, or myoblasts of the patient's mother or her 2 sons, indicating that this mutation was not maternally transmitted. Single-fiber PCR studies provided direct evidence for an association between this point mutation and COX deficiency and indicated that the proportion of mutant mtDNA required to induce COX deficiency is lower than that reported for tRNA-gene point mutations. The 9952G-A transition resulted in conversion of the wildtype TGA codon for tryptophan into a TAA stop codon. </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>.0005 MITOCHONDRIAL COMPLEX IV DEFICIENCY</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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MTCO3, 1-BP INS, 9537C
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<br />
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SNP: rs267606614,
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ClinVar: RCV000010292, RCV000144008
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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>Tiranti et al. (2000) reported an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she had developed progressive spastic paraparesis associated with ophthalmoparesis, moderate mental retardation, severe lactic acidosis, and Leigh-like lesions in the putamen. A profound, isolated defect of COX (220110) was found by histochemical and biochemical assays in skin and muscle. Sequence analysis of muscle mtDNA revealed a virtually homoplasmic frameshift mutation in the MTCO3 gene, due to the insertion of an extra C at nucleotide position 9537. Although the 9537insC did not impair transcription of MTCO3, no full-length COX subunit III protein was detected in mtDNA translation assays in vivo. Western blot analysis showed a reduction of specific crossreacting material and the accumulation of early-assembly intermediates of COX, whereas the fully assembled complex was absent. One of these intermediates had an electrophoretic mobility different from those seen in controls, suggesting the presence of a qualitative abnormality of COX assembly. Immunostaining with specific antibodies failed to detect the presence of several smaller subunits in the complex lacking COX subunit III, in spite of the demonstration that these subunits were present in the crude mitochondrial fraction of the patient's cultured fibroblasts. The authors proposed a role for COX subunit III in the incorporation and maintenance of smaller COX subunits within the complex. </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>.0006 MITOCHONDRIAL COMPLEX IV DEFICIENCY</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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MTCO3, 9379G-A, TRP58TER
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<br />
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SNP: rs267606615,
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ClinVar: RCV000010293, RCV000854509, RCV001787028
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient presenting with a relatively mild, childhood onset, slowly progressive myopathy with exercise intolerance, lactic acidosis, delayed growth, and numerous ragged-red fibers, lipidosis, and severe cytochrome c oxidase deficiency (220110) in skeletal muscle, Horvath et al. (2002) identified a heteroplasmic 9379G-A transition in the MTCO3 gene, resulting in a trp58-to-ter (W58X) mutation. Absence of the mutation in leukocytes of the patient and in members of the family on the mother's side pointed to a sporadic origin. Immunohistochemistry showed a decreased steady state level of COX subunits II (516040) and III in skeletal muscle, whereas staining of the nuclear-encoded subunit IV (123864) was normal. </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>.0007 SEIZURES AND LACTIC ACIDOSIS</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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MTCO3, 2-BP DEL, 9205TA
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<br />
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SNP: rs199476137,
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ClinVar: RCV000010281, RCV002247301, RCV002260586
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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>This deletion occurs at the junction between the MTATP6 (516060) and MTCO3 genes. See 516060.0007, Seneca et al. (1996), Temperley et al. (2003). </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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|
Hill (1993)
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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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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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<p class="mim-text-font">
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Capaldi, R. A.
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<strong>Structure and function of cytochrome c oxidase.</strong>
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Annu. Rev. Biochem. 59: 569-596, 1990.
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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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Ching, E., Attardi, G.
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<strong>High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.</strong>
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Biochemistry 21: 3188-3195, 1982.
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[Full Text: https://doi.org/10.1021/bi00256a024]
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Giles, R. E., Blanc, H., Cann, H. M., Wallace, D. C.
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<strong>Maternal inheritance of human mitochondrial DNA.</strong>
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Proc. Nat. Acad. Sci. 77: 6715-6719, 1980.
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[Full Text: https://doi.org/10.1073/pnas.77.11.6715]
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Hanna, M. G., Nelson, I. P., Rahman, S., Lane, R. J. M., Land, J., Heales, S., Cooper, M. J., Schapira, A. H. V., Morgan-Hughes, J. A., Wood, N. W.
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<strong>Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.</strong>
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Am. J. Hum. Genet. 63: 29-36, 1998.
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Hare, J. F., Ching, E., Attardi, G.
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<strong>Isolation, subunit composition and site of synthesis of human cytochrome c oxidase.</strong>
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Biochemistry 19: 2023-2030, 1980.
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Hill, B. C.
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<strong>The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.</strong>
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J. Bioenerg. Biomembr. 25: 115-120, 1993.
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[Full Text: https://doi.org/10.1007/BF00762853]
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Horvath, R., Scharfe, C., Hoeltzenbein, M., Do, B. H., Schroder, C., Warzok, R., Vogelgesang, S., Lochmuller, H., Muller-Hocker, J., Gerbitz, K. D., Oefner, P. J., Jaksch, M.
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<strong>Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.</strong>
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J. Med. Genet. 39: 812-816, 2002.
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<p class="mim-text-font">
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Hosler, J. P., Ferguson-Miller, S., Calhoun, M. W., Thomas, J. W., Hill, J., Lemieux, L., Ma, J., Georgiou, C., Fetter, J., Shapleigh, J., Tecklenburg, M. M. J., Babcock, G. T., Gennis, R. B.
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<strong>Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome b0.</strong>
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J. Bioenerg. Biomembr. 25: 121-136, 1993.
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[PubMed: 8389745]
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[Full Text: https://doi.org/10.1007/BF00762854]
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<p class="mim-text-font">
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Howell, N.
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<strong>Primary LHON mutations: trying to separate 'fruyt' from 'chaf.'</strong>
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Clin. Neurosci. 2: 130-137, 1994.
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Johns, D. R., Neufeld, M. J.
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<strong>Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.</strong>
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Biochem. Biophys. Res. Commun. 196: 810-815, 1993.
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[PubMed: 8240356]
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[Full Text: https://doi.org/10.1006/bbrc.1993.2321]
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Johns, D. R., Neufeld, M. J., Hedges, T. R., III.
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<strong>Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy.</strong>
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J. Neuro-ophthal. 14: 135-140, 1994.
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<p class="mim-text-font">
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Kadenbach, B., Jarausch, J., Hartmann, R., Merle, P.
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<strong>Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.</strong>
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Anal. Biochem. 129: 517-521, 1983.
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[PubMed: 6303162]
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[Full Text: https://doi.org/10.1016/0003-2697(83)90586-9]
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</p>
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<li>
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<p class="mim-text-font">
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Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S. W., Penn, A. M. W., Buist, N. R. M., Kennaway, N. G.
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<strong>A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.</strong>
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Nature Genet. 12: 410-416, 1996.
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[PubMed: 8630495]
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[Full Text: https://doi.org/10.1038/ng0496-410]
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<p class="mim-text-font">
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Lomax, M. I., Grossman, L. I.
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<strong>Tissue-specific genes for respiratory proteins.</strong>
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Trends Biochem. Sci. 14: 501-503, 1989. Note: Erratum: Trends Biochem. Sci. 15: 217 only, 1990.
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[PubMed: 2560276]
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[Full Text: https://doi.org/10.1016/0968-0004(89)90185-0]
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</p>
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<li>
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<p class="mim-text-font">
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Montoya, J., Ojala, D., Attardi, G.
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<strong>Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.</strong>
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Nature 290: 465-470, 1981.
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[PubMed: 7219535]
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[Full Text: https://doi.org/10.1038/290465a0]
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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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Ojala, D., Montoya, J., Attardi, G.
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<strong>tRNA punctuation model of RNA processing in human mitochondria.</strong>
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Nature 290: 470-474, 1981.
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[PubMed: 7219536]
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[Full Text: https://doi.org/10.1038/290470a0]
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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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Oliver, N. A., McCarthy, J., Wallace, D. C.
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<strong>Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.</strong>
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Somat. Cell Molec. Genet. 10: 639-643, 1984.
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[PubMed: 6438810]
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[Full Text: https://doi.org/10.1007/BF01535230]
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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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Oliver, N. A., Wallace, D. C.
|
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<strong>Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.</strong>
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