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- *615623 - CYTOCHROME C OXIDASE ASSEMBLY FACTOR 7; COA7
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- OMIM
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<p>
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<span class="h4">*615623</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/615623">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="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 id="mimExternalLinksFold" class="collapse in">
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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=ENSG00000162377;t=ENST00000371538" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=65260" 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=615623" 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="mimDna">
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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=ENSG00000162377;t=ENST00000371538" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_023077" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_023077" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=615623" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div 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/COA7" 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/10433925,15929784,119627177,223590164,282396088,308219364" 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/Q96BR5" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=65260" 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=ENSG00000162377;t=ENST00000371538" 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=COA7" 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=COA7" 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+65260" 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/COA7" 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:65260" 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/65260" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000371538.5&hgg_start=52684449&hgg_end=52698347&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div 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:25716" 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=615623[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=615623[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/ENSG00000162377" 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=COA7" 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=COA7" 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=COA7&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/PA142672414" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:25716" 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/FBgn0039965.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:1917143" 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/COA7#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:1917143" 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/65260/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=65260" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00013925;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041014-16" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:65260" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=COA7&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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615623
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CYTOCHROME C OXIDASE ASSEMBLY FACTOR 7; COA7
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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RESPIRATORY CHAIN ASSEMBLY PROTEIN 1; RESA1<br />
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SEL1 REPEAT-CONTAINING PROTEIN 1; SELRC1<br />
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CHROMOSOME 1 OPEN READING FRAME 163; C1ORF163
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COA7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COA7</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/619?start=-3&limit=10&highlight=619">1p32.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:52684449-52698347&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:52,684,449-52,698,347</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/619?start=-3&limit=10&highlight=619">
|
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1p32.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618387"> 618387 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/615623" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/615623" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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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>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The COA7 gene encodes a protein that localizes to the mitochondria and is involved in the assembly of mitochondrial complex IV, which is the terminal component of the mitochondrial respiratory chain (summary by <a href="#3" class="mim-tip-reference" title="Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M. <strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong> J. Med. Genet. 53: 846-849, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27683825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27683825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27683825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27683825">Martinez Lyons et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27683825" 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>COA7 is predicted to have a role in assembling mitochondrial complexes that function in oxidative phosphorylation (<a href="#2" class="mim-tip-reference" title="Kozjak-Pavlovic, V., Prell, F., Thiede, B., Gotz, M., Wosiek, D., Ott, C., Rudel, T. <strong>C1ORF163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.</strong> J. Molec. Biol. 426: 908-920, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24333015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24333015</a>] [<a href="https://doi.org/10.1016/j.jmb.2013.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24333015">Kozjak-Pavlovic et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24333015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Kozjak-Pavlovic, V., Prell, F., Thiede, B., Gotz, M., Wosiek, D., Ott, C., Rudel, T. <strong>C1ORF163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.</strong> J. Molec. Biol. 426: 908-920, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24333015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24333015</a>] [<a href="https://doi.org/10.1016/j.jmb.2013.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24333015">Kozjak-Pavlovic et al. (2014)</a> reported that human COA7, which they called C1ORF163, encodes a 231-amino acid protein that shares sequence similarity with beta-lactamase (LACTB; <a href="/entry/608440">608440</a>). The protein is rich in cysteine and has 5 predicted Sel1-like repeats (SLRs). SLRs share similarity with C. elegans Sel1 (see <a href="/entry/602329">602329</a>) and are predicted to be involved in protein-protein interactions. C1ORF163 localized to mitochondria in HeLa cells. Extraction and swelling experiments revealed that C1ORF163 is a soluble protein of the inner mitochondrial space. Database analysis found conservation of C1ORF163 from bacteria to human. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24333015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a> found expression of the COA7 gene in the cytoplasm of Schwann cells of human sural nerve. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Kozjak-Pavlovic, V., Prell, F., Thiede, B., Gotz, M., Wosiek, D., Ott, C., Rudel, T. <strong>C1ORF163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.</strong> J. Molec. Biol. 426: 908-920, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24333015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24333015</a>] [<a href="https://doi.org/10.1016/j.jmb.2013.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24333015">Kozjak-Pavlovic et al. (2014)</a> found that knockdown of SAM50 (SAMM50; <a href="/entry/612058">612058</a>) or mitofilin (IMMT; <a href="/entry/600378">600378</a>) in HeLa cells reduced the protein content of C1ORF163. Knockdown of C1ORF163 via short hairpin RNA reduced the content of mitochondrial complex IV proteins and the number of mature complex IV complexes. Knockdown of C1ORF163 had weaker effects on complex I, III, and V proteins, and had no effect on complex II proteins. Knockdown of C1ORF163 reduced complex IV activity, with weaker effects on the activities of complexes I and V. Knockdown of C1ORF163 had no effect on mitochondrial morphology, membrane potential, or protein import. Native gel electrophoresis detected C1ORF163 in several soluble protein complexes of the inner mitochondrial space, and knockdown experiments showed that the endogenous protein was present in complexes with apparent molecular masses of 60 and 150 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24333015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M. <strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong> J. Med. Genet. 53: 846-849, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27683825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27683825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27683825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27683825">Martinez Lyons et al. (2016)</a> determined that the COA7 is a soluble protein that predominantly localizes to the mitochondrial matrix, although some appeared to be associated with the inner mitochondrial membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27683825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using affinity purification, mass spectrometry, and Western blot analyses in human Flp-In T-Rex 293 cells, <a href="#4" class="mim-tip-reference" title="Mohanraj, K., Wasilewski, M., Beninca, C., Cysewski, D., Poznanaski, J., Sakowska, P., Bugajska, Z., Deckers, M., Dennerlein, S., Fernandez-Vizarra, E., Rehling, P., Dadlez, M., Zeviani, M., Chacinska, A. <strong>Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.</strong> EMBO Molec. Med. 11: e9561, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30885959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30885959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30885959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.15252/emmm.201809561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30885959">Mohanraj et al. (2019)</a> found that COA7 interacted with MIA40 (CHCHD4; <a href="/entry/611077">611077</a>) through disulfide bonds. COA7 was a substrate of MIA40 that was synthesized in the cytosol and imported to the mitochondrial intermembrane space in a manner dependent on MIA40. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30885959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Kozjak-Pavlovic, V., Prell, F., Thiede, B., Gotz, M., Wosiek, D., Ott, C., Rudel, T. <strong>C1ORF163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.</strong> J. Molec. Biol. 426: 908-920, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24333015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24333015</a>] [<a href="https://doi.org/10.1016/j.jmb.2013.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24333015">Kozjak-Pavlovic et al. (2014)</a> reported that the COA7 gene maps to chromosome 1p32.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24333015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 19-year-old woman with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; <a href="/entry/618387">618387</a>), <a href="#3" class="mim-tip-reference" title="Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M. <strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong> J. Med. Genet. 53: 846-849, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27683825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27683825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27683825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27683825">Martinez Lyons et al. (2016)</a> identified compound heterozygous mutations in the COA7 gene (<a href="#0001">615623.0001</a> and <a href="#0002">615623.0002</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient cells showed no detectable COA7 protein, decreased amounts of COX structural subunits MTCO2 (<a href="/entry/516040">516040</a>) and MTCO3 (<a href="/entry/516050">516050</a>), and decreased levels of fully assembled complex IV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27683825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 unrelated Japanese patients with SCAN3, <a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a> identified homozygous or compound heterozygous mutations in the COA7 gene (see, e.g., <a href="#0003">615623.0003</a>-<a href="#0005">615623.0005</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Expression of some of the variants in HeLa cells showed that they localized normally to the mitochondria. The mutations were postulated to result in a loss of function with a neurodegenerative effect. The patients were ascertained from 1,396 Japanese patients with peripheral neuropathy who underwent genetic analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a> found that knockdown of the Drosophila Coa7 gene caused morphologically aberrant rough eyes with fusion of ommatidia and lack of bristles compared to controls. Mutant flies also showed a shorter life span and locomotor defects, which were associated with abnormalities in the formation of motor neurons at presynaptic terminals at the neuromuscular junction (NMJ). However, <a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a> suggested that the NMJ abnormalities may be a secondary effect of axonal changes in the peripheral nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" 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>.0001 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs961876891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs961876891;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs961876891?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs961876891" 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=rs961876891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 19-year-old woman with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; <a href="/entry/618387">618387</a>), <a href="#3" class="mim-tip-reference" title="Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M. <strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong> J. Med. Genet. 53: 846-849, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27683825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27683825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27683825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27683825">Martinez Lyons et al. (2016)</a> identified compound heterozygous mutations in the COA7 gene: a c.410A-G transition (c.410A-G, NM_023077), resulting in a tyr137-to-cys (Y137C) substitution at a highly conserved residue, and a G-to-T transversion in intron 2 (c.287+1G-T; <a href="#0002">615623.0002</a>), resulting in an in-frame deletion of the 47 amino acids encoded by exon 2. This deletion spans almost all of the first conserved Sel1-like domain and half of the second domain. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Neither was reported in the ExAC database. Patient cells showed no detectable COA7 protein, decreased amounts of COX structural subunits MTCO2 (<a href="/entry/516040">516040</a>) and MTCO3 (<a href="/entry/516050">516050</a>), and decreased levels of fully assembled complex IV. These defects could be rescued by expression of wildtype COA7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27683825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Mohanraj, K., Wasilewski, M., Beninca, C., Cysewski, D., Poznanaski, J., Sakowska, P., Bugajska, Z., Deckers, M., Dennerlein, S., Fernandez-Vizarra, E., Rehling, P., Dadlez, M., Zeviani, M., Chacinska, A. <strong>Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.</strong> EMBO Molec. Med. 11: e9561, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30885959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30885959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30885959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.15252/emmm.201809561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30885959">Mohanraj et al. (2019)</a> found that COA7 with the Y137C mutation could interact with MIA40 (CHCHD4; <a href="/entry/611077">611077</a>), but its import into mitochondria was impaired. Inefficient import of mutant COA7 into mitochondria exposed it to excessive degradation by the proteasome, resulting in impaired mitochondrial respiratory chain assembly. Inhibition of the proteasome increased mitochondrial levels of mutant COA7 and restored respiratory complex activity and assembly in patient-derived fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30885959" 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 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1197945739 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1197945739;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1197945739?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1197945739" 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=rs1197945739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of a G-to-T transversion in intron 2 (c.287+1G-T, NM_023077) of the COA7 gene, resulting in an in-frame deletion of the 47 amino acids encoded by exon 2, that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; <a href="/entry/618387">618387</a>) by <a href="#3" class="mim-tip-reference" title="Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M. <strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong> J. Med. Genet. 53: 846-849, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27683825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27683825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27683825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27683825">Martinez Lyons et al. (2016)</a>, see <a href="#0001">615623.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27683825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Mohanraj, K., Wasilewski, M., Beninca, C., Cysewski, D., Poznanaski, J., Sakowska, P., Bugajska, Z., Deckers, M., Dennerlein, S., Fernandez-Vizarra, E., Rehling, P., Dadlez, M., Zeviani, M., Chacinska, A. <strong>Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.</strong> EMBO Molec. Med. 11: e9561, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30885959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30885959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30885959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.15252/emmm.201809561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30885959">Mohanraj et al. (2019)</a> found that COA7 with the exon 2 deletion could interact with MIA40 (CHCHD4; <a href="/entry/611077">611077</a>), but its import into mitochondria was impaired. Inefficient import of mutant COA7 into mitochondria exposed it to excessive degradation by the proteasome, resulting in impaired mitochondrial respiratory chain assembly. Inhibition of the proteasome increased mitochondrial levels of mutant COA7 and restored respiratory complex activity and assembly in patient-derived fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30885959" 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 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs780572767 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs780572767;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs780572767?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs780572767" 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=rs780572767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 63-year-old Japanese man (patient 1), born of consanguineous parents, with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; <a href="/entry/618387">618387</a>), <a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a> identified a homozygous c.17A-G transition in the COA7 gene, resulting in an asp6-to-gly (D6G) substitution at a conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was found at a low frequency in heterozygous state in the ExAC database (1 in 120,268 alleles), but was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Sequencing Project databases. Two additional unrelated Japanese patients with a similar disorder were found to be compound heterozygous for D6G and a different mutation in the COA7 gene: a 28-year-old man (patient 3) carried a c.446G-T transversion, resulting in a ser149-to-ile (S149I; <a href="#0004">615623.0004</a>) substitution at a conserved residue on the other allele, and a 27-year-old man (patient 4) carried a 1-bp deletion (c.430delG; <a href="#0005">615623.0005</a>), resulting in a frameshift and premature termination (Gly144fs), on the other allele. The 2 additional variants were not found in any of the public databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" 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>For discussion of the c.446G-T transversion in the COA7 gene, resulting in a ser149-to-ile (S149I) substitution, that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; <a href="/entry/618387">618387</a>) by <a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a>, see <a href="#0003">615623.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" 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 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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COA7, 1-BP DEL, 430G
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1558102464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558102464;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=rs1558102464" 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=rs1558102464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000767396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000767396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000767396</a>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (c.430delG) in the COA7 gene, resulting in a frameshift and premature termination (Gly144fs), that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; <a href="/entry/618387">618387</a>) by <a href="#1" class="mim-tip-reference" title="Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others. <strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong> Brain 141: 1622-1636, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>] [<a href="https://doi.org/10.1093/brain/awy104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29718187">Higuchi et al. (2018)</a>, see <a href="#0003">615623.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" 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="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Higuchi2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others.
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<strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong>
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Brain 141: 1622-1636, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29718187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29718187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29718187" 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/brain/awy104" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Kozjak-Pavlovic2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kozjak-Pavlovic, V., Prell, F., Thiede, B., Gotz, M., Wosiek, D., Ott, C., Rudel, T.
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<strong>C1ORF163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.</strong>
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J. Molec. Biol. 426: 908-920, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24333015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24333015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24333015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jmb.2013.12.001" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Martinez Lyons2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M.
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<strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong>
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J. Med. Genet. 53: 846-849, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27683825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27683825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27683825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27683825" 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/10.1136/jmedgenet-2016-104194" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Mohanraj2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mohanraj, K., Wasilewski, M., Beninca, C., Cysewski, D., Poznanaski, J., Sakowska, P., Bugajska, Z., Deckers, M., Dennerlein, S., Fernandez-Vizarra, E., Rehling, P., Dadlez, M., Zeviani, M., Chacinska, A.
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<strong>Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.</strong>
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EMBO Molec. Med. 11: e9561, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30885959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30885959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30885959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30885959" 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/10.15252/emmm.201809561" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 04/18/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 04/15/2019<br>Cassandra L. Kniffin - updated : 09/06/2017
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<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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Patricia A. Hartz : 2/4/2014
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/25/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/18/2019<br>carol : 04/16/2019<br>carol : 04/15/2019<br>ckniffin : 04/15/2019<br>alopez : 09/08/2017<br>ckniffin : 09/06/2017<br>mgross : 02/07/2014<br>mcolton : 2/4/2014
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<h3>
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<span class="mim-font">
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<strong>*</strong> 615623
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<h3>
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<span class="mim-font">
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CYTOCHROME C OXIDASE ASSEMBLY FACTOR 7; COA7
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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RESPIRATORY CHAIN ASSEMBLY PROTEIN 1; RESA1<br />
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SEL1 REPEAT-CONTAINING PROTEIN 1; SELRC1<br />
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CHROMOSOME 1 OPEN READING FRAME 163; C1ORF163
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COA7</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 1p32.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:52,684,449-52,698,347 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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1p32.3
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<span class="mim-font">
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Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
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<td>
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<span class="mim-font">
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618387
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The COA7 gene encodes a protein that localizes to the mitochondria and is involved in the assembly of mitochondrial complex IV, which is the terminal component of the mitochondrial respiratory chain (summary by Martinez Lyons et al., 2016). </p><p>COA7 is predicted to have a role in assembling mitochondrial complexes that function in oxidative phosphorylation (Kozjak-Pavlovic et al., 2014). </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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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Kozjak-Pavlovic et al. (2014) reported that human COA7, which they called C1ORF163, encodes a 231-amino acid protein that shares sequence similarity with beta-lactamase (LACTB; 608440). The protein is rich in cysteine and has 5 predicted Sel1-like repeats (SLRs). SLRs share similarity with C. elegans Sel1 (see 602329) and are predicted to be involved in protein-protein interactions. C1ORF163 localized to mitochondria in HeLa cells. Extraction and swelling experiments revealed that C1ORF163 is a soluble protein of the inner mitochondrial space. Database analysis found conservation of C1ORF163 from bacteria to human. </p><p>Higuchi et al. (2018) found expression of the COA7 gene in the cytoplasm of Schwann cells of human sural nerve. </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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kozjak-Pavlovic et al. (2014) found that knockdown of SAM50 (SAMM50; 612058) or mitofilin (IMMT; 600378) in HeLa cells reduced the protein content of C1ORF163. Knockdown of C1ORF163 via short hairpin RNA reduced the content of mitochondrial complex IV proteins and the number of mature complex IV complexes. Knockdown of C1ORF163 had weaker effects on complex I, III, and V proteins, and had no effect on complex II proteins. Knockdown of C1ORF163 reduced complex IV activity, with weaker effects on the activities of complexes I and V. Knockdown of C1ORF163 had no effect on mitochondrial morphology, membrane potential, or protein import. Native gel electrophoresis detected C1ORF163 in several soluble protein complexes of the inner mitochondrial space, and knockdown experiments showed that the endogenous protein was present in complexes with apparent molecular masses of 60 and 150 kD. </p><p>Martinez Lyons et al. (2016) determined that the COA7 is a soluble protein that predominantly localizes to the mitochondrial matrix, although some appeared to be associated with the inner mitochondrial membrane. </p><p>Using affinity purification, mass spectrometry, and Western blot analyses in human Flp-In T-Rex 293 cells, Mohanraj et al. (2019) found that COA7 interacted with MIA40 (CHCHD4; 611077) through disulfide bonds. COA7 was a substrate of MIA40 that was synthesized in the cytosol and imported to the mitochondrial intermembrane space in a manner dependent on MIA40. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kozjak-Pavlovic et al. (2014) reported that the COA7 gene maps to chromosome 1p32.3. </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a 19-year-old woman with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; 618387), Martinez Lyons et al. (2016) identified compound heterozygous mutations in the COA7 gene (615623.0001 and 615623.0002). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient cells showed no detectable COA7 protein, decreased amounts of COX structural subunits MTCO2 (516040) and MTCO3 (516050), and decreased levels of fully assembled complex IV. </p><p>In 4 unrelated Japanese patients with SCAN3, Higuchi et al. (2018) identified homozygous or compound heterozygous mutations in the COA7 gene (see, e.g., 615623.0003-615623.0005). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Expression of some of the variants in HeLa cells showed that they localized normally to the mitochondria. The mutations were postulated to result in a loss of function with a neurodegenerative effect. The patients were ascertained from 1,396 Japanese patients with peripheral neuropathy who underwent genetic analysis. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Higuchi et al. (2018) found that knockdown of the Drosophila Coa7 gene caused morphologically aberrant rough eyes with fusion of ommatidia and lack of bristles compared to controls. Mutant flies also showed a shorter life span and locomotor defects, which were associated with abnormalities in the formation of motor neurons at presynaptic terminals at the neuromuscular junction (NMJ). However, Higuchi et al. (2018) suggested that the NMJ abnormalities may be a secondary effect of axonal changes in the peripheral nervous system. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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COA7, TYR137CYS
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<br />
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SNP: rs961876891,
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gnomAD: rs961876891,
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ClinVar: RCV000505269
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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 19-year-old woman with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; 618387), Martinez Lyons et al. (2016) identified compound heterozygous mutations in the COA7 gene: a c.410A-G transition (c.410A-G, NM_023077), resulting in a tyr137-to-cys (Y137C) substitution at a highly conserved residue, and a G-to-T transversion in intron 2 (c.287+1G-T; 615623.0002), resulting in an in-frame deletion of the 47 amino acids encoded by exon 2. This deletion spans almost all of the first conserved Sel1-like domain and half of the second domain. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Neither was reported in the ExAC database. Patient cells showed no detectable COA7 protein, decreased amounts of COX structural subunits MTCO2 (516040) and MTCO3 (516050), and decreased levels of fully assembled complex IV. These defects could be rescued by expression of wildtype COA7. </p><p>Mohanraj et al. (2019) found that COA7 with the Y137C mutation could interact with MIA40 (CHCHD4; 611077), but its import into mitochondria was impaired. Inefficient import of mutant COA7 into mitochondria exposed it to excessive degradation by the proteasome, resulting in impaired mitochondrial respiratory chain assembly. Inhibition of the proteasome increased mitochondrial levels of mutant COA7 and restored respiratory complex activity and assembly in patient-derived fibroblasts. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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COA7, IVS2DS, G-T, +1
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<br />
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SNP: rs1197945739,
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gnomAD: rs1197945739,
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ClinVar: RCV000505271
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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>For discussion of a G-to-T transversion in intron 2 (c.287+1G-T, NM_023077) of the COA7 gene, resulting in an in-frame deletion of the 47 amino acids encoded by exon 2, that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; 618387) by Martinez Lyons et al. (2016), see 615623.0001. </p><p>Mohanraj et al. (2019) found that COA7 with the exon 2 deletion could interact with MIA40 (CHCHD4; 611077), but its import into mitochondria was impaired. Inefficient import of mutant COA7 into mitochondria exposed it to excessive degradation by the proteasome, resulting in impaired mitochondrial respiratory chain assembly. Inhibition of the proteasome increased mitochondrial levels of mutant COA7 and restored respiratory complex activity and assembly in patient-derived fibroblasts. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0003 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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COA7, ASP6GLY
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<br />
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SNP: rs780572767,
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gnomAD: rs780572767,
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ClinVar: RCV000767395
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 63-year-old Japanese man (patient 1), born of consanguineous parents, with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; 618387), Higuchi et al. (2018) identified a homozygous c.17A-G transition in the COA7 gene, resulting in an asp6-to-gly (D6G) substitution at a conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was found at a low frequency in heterozygous state in the ExAC database (1 in 120,268 alleles), but was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Sequencing Project databases. Two additional unrelated Japanese patients with a similar disorder were found to be compound heterozygous for D6G and a different mutation in the COA7 gene: a 28-year-old man (patient 3) carried a c.446G-T transversion, resulting in a ser149-to-ile (S149I; 615623.0004) substitution at a conserved residue on the other allele, and a 27-year-old man (patient 4) carried a 1-bp deletion (c.430delG; 615623.0005), resulting in a frameshift and premature termination (Gly144fs), on the other allele. The 2 additional variants were not found in any of the public databases. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
COA7, SER149ILE
|
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|
|
<br />
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|
|
SNP: rs1558102448,
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|
|
|
|
|
|
|
ClinVar: RCV000767394
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.446G-T transversion in the COA7 gene, resulting in a ser149-to-ile (S149I) substitution, that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; 618387) by Higuchi et al. (2018), see 615623.0003. </p>
|
|
</span>
|
|
</div>
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|
<div>
|
|
<br />
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</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
COA7, 1-BP DEL, 430G
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|
<br />
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|
|
SNP: rs1558102464,
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|
|
ClinVar: RCV000767396
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.430delG) in the COA7 gene, resulting in a frameshift and premature termination (Gly144fs), that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3; 618387) by Higuchi et al. (2018), see 615623.0003. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</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">
|
|
Higuchi, Y., Okunushi, R., Hara, T., Hashiguchi, A., Yuan, J., Yoshimura, A., Murayama, K., Ohtake, A., Ando, M., Hiramatsu, Y., Ishihara, S., Tanabe, H. and 18 others.
|
|
<strong>Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.</strong>
|
|
Brain 141: 1622-1636, 2018.
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[PubMed: 29718187]
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[Full Text: https://doi.org/10.1093/brain/awy104]
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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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Kozjak-Pavlovic, V., Prell, F., Thiede, B., Gotz, M., Wosiek, D., Ott, C., Rudel, T.
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<strong>C1ORF163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.</strong>
|
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J. Molec. Biol. 426: 908-920, 2014.
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[PubMed: 24333015]
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[Full Text: https://doi.org/10.1016/j.jmb.2013.12.001]
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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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Martinez Lyons, A., Ardissone, A., Reyes, A., Robinson, A. J., Moroni, I., Ghezzi, D., Fernandez-Vizarra, E., Zeviani, M.
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<strong>COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.</strong>
|
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J. Med. Genet. 53: 846-849, 2016.
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[PubMed: 27683825]
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[Full Text: https://doi.org/10.1136/jmedgenet-2016-104194]
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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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Mohanraj, K., Wasilewski, M., Beninca, C., Cysewski, D., Poznanaski, J., Sakowska, P., Bugajska, Z., Deckers, M., Dennerlein, S., Fernandez-Vizarra, E., Rehling, P., Dadlez, M., Zeviani, M., Chacinska, A.
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|
<strong>Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.</strong>
|
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EMBO Molec. Med. 11: e9561, 2019.
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[PubMed: 30885959]
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[Full Text: https://doi.org/10.15252/emmm.201809561]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 04/18/2019<br>Cassandra L. Kniffin - updated : 04/15/2019<br>Cassandra L. Kniffin - updated : 09/06/2017
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 2/4/2014
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/25/2023<br>mgross : 04/18/2019<br>carol : 04/16/2019<br>carol : 04/15/2019<br>ckniffin : 04/15/2019<br>alopez : 09/08/2017<br>ckniffin : 09/06/2017<br>mgross : 02/07/2014<br>mcolton : 2/4/2014
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