2726 lines
164 KiB
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Entry
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- *300885 - CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300885</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<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/300885">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000131174;t=ENST00000650309" 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=1349" 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=300885" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000131174;t=ENST00000650309" 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_001866" 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_001866" 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=300885" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/COX7B" 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/30151,461804,4502991,17390909,32879877,47496611,49457244,119619013,189053198" 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/P24311" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1349" 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=ENSG00000131174;t=ENST00000650309" 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=COX7B" 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=COX7B" 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+1349" 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/COX7B" 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:1349" 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/1349" 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=chrX&hgg_gene=ENST00000650309.2&hgg_start=77899468&hgg_end=77907376&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300885[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 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=300885[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://www.deciphergenomics.org/gene/COX7B/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000131174" 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=COX7B" 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=COX7B" 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=COX7B&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/PA26809" 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:2291" 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://www.mousephenotype.org/data/genes/MGI:1913392" 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/COX7B#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:1913392" 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/1349/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=1349" 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>
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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:1349" 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=COX7B&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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300885
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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, SUBUNIT 7B; COX7B
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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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CYTOCHROME c OXIDASE, SUBUNIT VIIb
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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=COX7B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COX7B</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/X/449?start=-3&limit=10&highlight=449">Xq21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:77899468-77907376&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'})">X:77,899,468-77,907,376</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/X/449?start=-3&limit=10&highlight=449">
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Xq21.1
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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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Linear skin defects with multiple congenital anomalies 2
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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/300887"> 300887 </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="X-linked dominant">XLD</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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/300885" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300885" 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>Cytochrome c oxidase (COX), the terminal component of the respiratory chain complex of most aerobic organisms, is composed of 13 subunits in mammals. Three COX subunits are encoded by mitochondrial DNA, and 10, including COX7B, are encoded by nuclear DNA (summary by <a href="#4" class="mim-tip-reference" title="Sadlock, J. E., Lightowlers, R. N., Capaldi, R. A., Schon, E. A. <strong>Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase.</strong> Biochim. Biophys. Acta 1172: 223-225, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382530</a>] [<a href="https://doi.org/10.1016/0167-4781(93)90301-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382530">Sadlock et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8382530" 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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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<p>By screening a human endothelial cell library with a partial bovine COX VIIb cDNA, <a href="#4" class="mim-tip-reference" title="Sadlock, J. E., Lightowlers, R. N., Capaldi, R. A., Schon, E. A. <strong>Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase.</strong> Biochim. Biophys. Acta 1172: 223-225, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382530</a>] [<a href="https://doi.org/10.1016/0167-4781(93)90301-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382530">Sadlock et al. (1993)</a> isolated a cDNA encoding human COX VIIb. The predicted 80-amino acid human protein contains a 24-amino acid leader sequence. The mature human and bovine COX VIIb polypeptides are 82% identical. Southern blot analysis indicated that the COX VIIb gene is part of a large gene family in the human genome. In a review article, <a href="#3" class="mim-tip-reference" title="Lenka, N., Vijayasarathy, C., Mullick, J., Avadhani, N. G. <strong>Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.</strong> Prog. Nucleic Acid Res. Molec. Biol. 61: 309-344, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9752724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9752724</a>] [<a href="https://doi.org/10.1016/s0079-6603(08)60830-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9752724">Lenka et al. (1998)</a> noted that the COX VIIb subunit is found in all mammalian tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9752724+8382530" 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 4 female patients with reticulolinear aplasia cutis congenita associated with microcephaly, facial dysmorphism, and other congenital anomalies (LSDMCA2; <a href="/entry/300887">300887</a>), <a href="#2" class="mim-tip-reference" title="Indrieri, A., van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M., Franco, B. <strong>Mutations in COX7B cause microphthalmia with linear skin lesions, and unconventional mitochondrial disease.</strong> Am. J. Hum. Genet. 91: 942-949, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23122588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23122588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23122588[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/10.1016/j.ajhg.2012.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23122588">Indrieri et al. (2012)</a> identified heterozygosity for a 1-bp deletion, a splice site mutation, and a nonsense mutation, respectively (<a href="#0001">300885.0001</a>-<a href="#0003">300885.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23122588" 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 female patient with reticulolinear congenital skin defects, microcephaly, facial dysmorphism, and short stature (LSDMCA2; <a href="/entry/300887">300887</a>), who was originally described by <a href="#5" class="mim-tip-reference" title="Zvulunov, A., Kachko, L., Manor, E., Shinwell, E., Carmi, R. <strong>Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22.</strong> Brit. J. Derm. 138: 1046-1052, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9747372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9747372</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1998.02277.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9747372">Zvulunov et al. (1998)</a>, <a href="#2" class="mim-tip-reference" title="Indrieri, A., van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M., Franco, B. <strong>Mutations in COX7B cause microphthalmia with linear skin lesions, and unconventional mitochondrial disease.</strong> Am. J. Hum. Genet. 91: 942-949, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23122588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23122588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23122588[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/10.1016/j.ajhg.2012.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23122588">Indrieri et al. (2012)</a> identified heterozygosity for a de novo 1-bp deletion (196delC) in exon 3 of the COX7B gene, causing a frameshift predicted to result in premature termination (Leu66CysfsTer48) and a mutant protein lacking the domain that interacts with COX subunits COX4 (<a href="/entry/123864">123864</a>) and COX6C (<a href="/entry/124090">124090</a>). The mutation was not found in her parents, in 200 ethnically matched controls, or in the dbSNP or NHLBI Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23122588+9747372" 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 girl with reticulolinear congenital skin defects, microcephaly, facial dysmorphism, short stature, atrial septal defect and ventricular hypertrophy, right diaphragmatic hernia, and agenesis of the left kidney with ureteral duplication of the right kidney (LSDMCA2; <a href="/entry/300887">300887</a>), <a href="#2" class="mim-tip-reference" title="Indrieri, A., van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M., Franco, B. <strong>Mutations in COX7B cause microphthalmia with linear skin lesions, and unconventional mitochondrial disease.</strong> Am. J. Hum. Genet. 91: 942-949, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23122588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23122588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23122588[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/10.1016/j.ajhg.2012.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23122588">Indrieri et al. (2012)</a> identified heterozygosity for a de novo A-G transition (41-2A-G) in intron 1 of the COX7B gene, predicted to create a novel splice acceptor site 1 base before the wildtype splice site (Val14Glyfs*19). The mutation was not found in her parents or in the dbSNP or NHLBI Exome Variant Server databases. In vitro analysis demonstrated that 90% of mutant transcripts contained an additional guanine at the start of exon 2, causing out-of-frame transcripts predicted to result in premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23122588" 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 girl with reticulolinear congenital skin defects of the face and neck, microcephaly, facial dysmorphism, tetralogy of Fallot, and intellectual disability (LSDMCA2; <a href="/entry/300887">300887</a>), <a href="#2" class="mim-tip-reference" title="Indrieri, A., van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M., Franco, B. <strong>Mutations in COX7B cause microphthalmia with linear skin lesions, and unconventional mitochondrial disease.</strong> Am. J. Hum. Genet. 91: 942-949, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23122588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23122588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23122588[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/10.1016/j.ajhg.2012.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23122588">Indrieri et al. (2012)</a> identified heterozygosity for a 55C-T transition in exon 2 of the COX7B gene, resulting in a gln19-to-ter (Q19X) substitution. The nonsense mutation was also present in heterozygosity in the proband's mother, who was born with reticulolinear congenital skin defects of the face and neck but had no other manifestations and normal cognitive function. The proband's 3 healthy sisters and healthy brother all inherited the wildtype allele from their mother, and the mutation was not found in the dbSNP or NHLBI Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23122588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Gross2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/8/2012.
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Indrieri, A., van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M., Franco, B.
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<strong>Mutations in COX7B cause microphthalmia with linear skin lesions, and unconventional mitochondrial disease.</strong>
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Am. J. Hum. Genet. 91: 942-949, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23122588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23122588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23122588[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=23122588" 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.ajhg.2012.09.016" target="_blank">Full Text</a>]
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<a id="Lenka1998" class="mim-anchor"></a>
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Lenka, N., Vijayasarathy, C., Mullick, J., Avadhani, N. G.
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<strong>Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.</strong>
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Prog. Nucleic Acid Res. Molec. Biol. 61: 309-344, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9752724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9752724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9752724" 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/s0079-6603(08)60830-2" target="_blank">Full Text</a>]
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<a id="Sadlock1993" class="mim-anchor"></a>
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Sadlock, J. E., Lightowlers, R. N., Capaldi, R. A., Schon, E. A.
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<strong>Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase.</strong>
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Biochim. Biophys. Acta 1172: 223-225, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8382530" 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/10.1016/0167-4781(93)90301-s" target="_blank">Full Text</a>]
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Zvulunov, A., Kachko, L., Manor, E., Shinwell, E., Carmi, R.
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<strong>Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22.</strong>
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Brit. J. Derm. 138: 1046-1052, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9747372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9747372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9747372" 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/10.1046/j.1365-2133.1998.02277.x" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 12/10/2012
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Matthew B. Gross - updated : 11/8/2012
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Joanna S. Amberger : 11/7/2012
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mgross : 03/10/2016
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<span class="mim-text-font">
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carol : 5/13/2015<br>carol : 9/6/2013<br>carol : 12/10/2012<br>carol : 12/10/2012<br>mgross : 11/8/2012<br>joanna : 11/7/2012
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<strong>*</strong> 300885
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CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B
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CYTOCHROME c OXIDASE, SUBUNIT VIIb
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<strong><em>HGNC Approved Gene Symbol: COX7B</em></strong>
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Cytogenetic location: Xq21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:77,899,468-77,907,376 </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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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq21.1
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Linear skin defects with multiple congenital anomalies 2
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300887
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X-linked dominant
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Cytochrome c oxidase (COX), the terminal component of the respiratory chain complex of most aerobic organisms, is composed of 13 subunits in mammals. Three COX subunits are encoded by mitochondrial DNA, and 10, including COX7B, are encoded by nuclear DNA (summary by Sadlock et al., 1993). </p>
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<strong>Cloning and Expression</strong>
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<p>By screening a human endothelial cell library with a partial bovine COX VIIb cDNA, Sadlock et al. (1993) isolated a cDNA encoding human COX VIIb. The predicted 80-amino acid human protein contains a 24-amino acid leader sequence. The mature human and bovine COX VIIb polypeptides are 82% identical. Southern blot analysis indicated that the COX VIIb gene is part of a large gene family in the human genome. In a review article, Lenka et al. (1998) noted that the COX VIIb subunit is found in all mammalian tissues. </p>
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<strong>Mapping</strong>
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<p>Gross (2012) mapped the COX7B gene to chromosome Xq21.1 based on an alignment of the COX7B sequence (GenBank AK311879) with the genomic sequence (GRCh37).</p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In 4 female patients with reticulolinear aplasia cutis congenita associated with microcephaly, facial dysmorphism, and other congenital anomalies (LSDMCA2; 300887), Indrieri et al. (2012) identified heterozygosity for a 1-bp deletion, a splice site mutation, and a nonsense mutation, respectively (300885.0001-300885.0003). </p>
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<strong>Animal Model</strong>
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<p>Indrieri et al. (2012) performed morpholino knockdown of cox7b in medaka fish (Oryzias latipes) and observed a dose-dependent phenotype characterized by microcephaly and microphthalmia, as well as severe cardiac defects including failure of heart loop formation and pericardial edema. </p>
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</span>
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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>3 Selected Examples):</strong>
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</span>
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</h4>
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<p />
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<span class="mim-font">
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<strong>.0001 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2</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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COX7B, 1-BP DEL, 196C
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<br />
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SNP: rs397514583,
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ClinVar: RCV000032986
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</span>
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<span class="mim-text-font">
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<p>In a female patient with reticulolinear congenital skin defects, microcephaly, facial dysmorphism, and short stature (LSDMCA2; 300887), who was originally described by Zvulunov et al. (1998), Indrieri et al. (2012) identified heterozygosity for a de novo 1-bp deletion (196delC) in exon 3 of the COX7B gene, causing a frameshift predicted to result in premature termination (Leu66CysfsTer48) and a mutant protein lacking the domain that interacts with COX subunits COX4 (123864) and COX6C (124090). The mutation was not found in her parents, in 200 ethnically matched controls, or in the dbSNP or NHLBI Exome Variant Server 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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<h4>
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<span class="mim-font">
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<strong>.0002 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2</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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COX7B, IVS1AS, A-G, -2
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<br />
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SNP: rs397514584,
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ClinVar: RCV000032987
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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 girl with reticulolinear congenital skin defects, microcephaly, facial dysmorphism, short stature, atrial septal defect and ventricular hypertrophy, right diaphragmatic hernia, and agenesis of the left kidney with ureteral duplication of the right kidney (LSDMCA2; 300887), Indrieri et al. (2012) identified heterozygosity for a de novo A-G transition (41-2A-G) in intron 1 of the COX7B gene, predicted to create a novel splice acceptor site 1 base before the wildtype splice site (Val14Glyfs*19). The mutation was not found in her parents or in the dbSNP or NHLBI Exome Variant Server databases. In vitro analysis demonstrated that 90% of mutant transcripts contained an additional guanine at the start of exon 2, causing out-of-frame transcripts predicted to result in premature termination. </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 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2</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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COX7B, GLN19TER
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<br />
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SNP: rs397514585,
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ClinVar: RCV000032988
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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 girl with reticulolinear congenital skin defects of the face and neck, microcephaly, facial dysmorphism, tetralogy of Fallot, and intellectual disability (LSDMCA2; 300887), Indrieri et al. (2012) identified heterozygosity for a 55C-T transition in exon 2 of the COX7B gene, resulting in a gln19-to-ter (Q19X) substitution. The nonsense mutation was also present in heterozygosity in the proband's mother, who was born with reticulolinear congenital skin defects of the face and neck but had no other manifestations and normal cognitive function. The proband's 3 healthy sisters and healthy brother all inherited the wildtype allele from their mother, and the mutation was not found in the dbSNP or NHLBI Exome Variant Server 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>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/8/2012.
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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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Indrieri, A., van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M., Franco, B.
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|
<strong>Mutations in COX7B cause microphthalmia with linear skin lesions, and unconventional mitochondrial disease.</strong>
|
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Am. J. Hum. Genet. 91: 942-949, 2012.
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[PubMed: 23122588]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.09.016]
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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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Lenka, N., Vijayasarathy, C., Mullick, J., Avadhani, N. G.
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<strong>Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.</strong>
|
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Prog. Nucleic Acid Res. Molec. Biol. 61: 309-344, 1998.
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[PubMed: 9752724]
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[Full Text: https://doi.org/10.1016/s0079-6603(08)60830-2]
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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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Sadlock, J. E., Lightowlers, R. N., Capaldi, R. A., Schon, E. A.
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<strong>Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase.</strong>
|
|
Biochim. Biophys. Acta 1172: 223-225, 1993.
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[PubMed: 8382530]
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[Full Text: https://doi.org/10.1016/0167-4781(93)90301-s]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Zvulunov, A., Kachko, L., Manor, E., Shinwell, E., Carmi, R.
|
|
<strong>Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22.</strong>
|
|
Brit. J. Derm. 138: 1046-1052, 1998.
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[PubMed: 9747372]
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[Full Text: https://doi.org/10.1046/j.1365-2133.1998.02277.x]
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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>
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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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Marla J. F. O'Neill - updated : 12/10/2012<br>Matthew B. Gross - updated : 11/8/2012
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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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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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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Joanna S. Amberger : 11/7/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 03/10/2016<br>carol : 5/13/2015<br>carol : 9/6/2013<br>carol : 12/10/2012<br>carol : 12/10/2012<br>mgross : 11/8/2012<br>joanna : 11/7/2012
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