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Entry
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- *618334 - CYTOCHROME b(-254) CHAPERONE 1; CYBC1
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- OMIM
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<p>
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<span class="h4">*618334</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<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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<a href="#geneFunction">Gene Function</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/618334">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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<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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</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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<h4 class="panel-title">
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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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<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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<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=ENSG00000178927;t=ENST00000306645" 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=79415" 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=618334" 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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<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=ENSG00000178927;t=ENST00000306645" 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_001033046,NM_001100407,NM_001100408,NM_001193653,NM_001193654,NM_001193655,NM_001193657,NR_036514,NR_036516,NR_036517,NR_036518,NR_036519,XM_011523606,XM_047436741,XM_047436742" 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_001033046" 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=618334" 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/CYBC1" 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/10799032,13097804,13278804,14042647,16549497,16551718,21748656,74271818,74732825,119610182,119610183,119610184,119610185,119610186,119610187,119610188,119610189,119610190,119610191,119610192,119610193,119610194,119610195,119610196,154350204,154350238,302393564,302393567,302393570,302393577,2217313803,2217313805,2217313807,2462557557,2462557559,2462557561" 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/Q9BQA9" 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=79415" 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=ENSG00000178927;t=ENST00000306645" 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=CYBC1" 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=CYBC1" 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+79415" 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/CYBC1" 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:79415" 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/79415" 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=chr17&hgg_gene=ENST00000306645.10&hgg_start=82442586&hgg_end=82450752&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 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=618334[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 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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</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=618334[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/CYBC1/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/ENSG00000178927" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CYBC1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=CYBC1" 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=CYBC1" 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=CYBC1&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/PA142672245" 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:28672" 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:2384959" 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/CYBC1#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:2384959" 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/79415/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=79415" 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://zfin.org/ZDB-GENE-040718-418" 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://reactome.org/content/query?q=CYBC1&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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618334
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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 b(-254) CHAPERONE 1; CYBC1
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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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ESSENTIAL FOR REACTIVE OXYGEN SPECIES; EROS<br />
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CHROMOSOME 17 OPEN READING FRAME 62; C17ORF62
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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=CYBC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CYBC1</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/17/1068?start=-3&limit=10&highlight=1068">17q25.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:82442586-82450752&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'})">17:82,442,586-82,450,752</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/17/1068?start=-3&limit=10&highlight=1068">
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17q25.3
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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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Chronic granulomatous disease 5, autosomal recessive
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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/618935"> 618935 </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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/618334" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/618334" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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>CYBC1 is a transmembrane protein that plays an essential role in innate immunity by controlling the phagocyte respiratory burst, which prevents overwhelming infection (<a href="#6" class="mim-tip-reference" title="Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others. <strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong> J. Exp. Med. 214: 1111-1128, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" 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="#6" class="mim-tip-reference" title="Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others. <strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong> J. Exp. Med. 214: 1111-1128, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al. (2017)</a> reported that mouse Cybc1, which they termed Eros, has 2 transmembrane helices in its N-terminal half and cytoplasmic N and C termini. Mouse and human EROS share approximately 89% amino acid identity. Database analysis indicated that mouse Eros is highly expressed in cells of the innate immune system, particularly neutrophils, monocytes, and macrophages. Microarray analysis of human blood subsets detected highest EROS expression in neutrophils and monocytes. Microscopic analyses of transfected mouse macrophages and HEK293T cells showed that mouse Eros localized to the endoplasmic reticulum (ER). Bioinformatic analysis identified EROS orthologs in all vertebrates, as well as in some lower-order animals, including poriferan sponges and sea urchins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 2/19/2019."None>Gross (2019)</a> mapped the CYBC1 gene to chromosome 17q25.3 based on an alignment of the CYBC1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC004171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC004171</a>) with the genomic sequence (GRCh38).</p><p><a href="#6" class="mim-tip-reference" title="Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others. <strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong> J. Exp. Med. 214: 1111-1128, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al. (2017)</a> stated that the mouse Cybc1 gene maps to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By microscopic analyses of transfected mouse macrophages and HEK293T cells, <a href="#6" class="mim-tip-reference" title="Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others. <strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong> J. Exp. Med. 214: 1111-1128, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al. (2017)</a> demonstrated that Eros colocalized in the ER with gp91phox (CYBB; <a href="/entry/300481">300481</a>) and p22phox (CYBA; <a href="/entry/608508">608508</a>), 2 essential membrane-bound components of cytochrome b558. Coimmunoprecipitation analysis showed that Eros interacted directly with gp91phox. Based on studies of neutrophils and macrophages from Eros -/- mice (see ANIMAL MODEL), the authors found that Eros was required for expression of gp91phox and p22phox, suggesting that Eros controls gp91phx and p22phox degradation in the ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" 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="Ryoden, Y., Fujii, T., Segawa, K., Nagata, S. <strong>Functional expression of the P2X7 ATP receptor requires Eros.</strong> J. Immun. 204: 559-568, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31862710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31862710</a>] [<a href="https://doi.org/10.4049/jimmunol.1900448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31862710">Ryoden et al. (2020)</a> found that P2X7 (P2RX7; <a href="/entry/602566">602566</a>) mediated phosphatidylserine exposure in mouse and human cells in response to extracellular ATP. For this function, P2X7 required EROS to be expressed at the plasma membrane. EROS localized to the endoplasmic reticulum, where it interacted with P2X7 and assisted its folding by functioning as a chaperone. P2X7 then moved to the plasma membrane, where it was present as a homotrimeric complex. EROS was also required for P2X7-mediated production of IL1-beta (IL1B; <a href="/entry/147720">147720</a>) triggered by ATP in macrophages. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31862710" 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 patient, born of Saudi Arabian parents, with autosomal recessive chronic granulomatous disease-5 (CGD5; <a href="/entry/618935">618935</a>), <a href="#3" class="mim-tip-reference" title="Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., and 95 others. <strong>The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.</strong> Hum. Genet. 136: 921-939, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28600779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28600779</a>] [<a href="https://doi.org/10.1007/s00439-017-1821-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28600779">Monies et al. (2017)</a> and <a href="#5" class="mim-tip-reference" title="Thomas, D. C., Charbonnier, L.-M., Schejtman, A., Aldhekri, H., Coomber, E. L., Dufficy, E. R., Beenken, A. E., Lee,, J. C., Clare, S., Speak, A. O., Thrasher A. J., Santilli, G., Al-Mousa, H., Alkuraya, F. S., Chatila, T. A., Smith, K. G. C. <strong>EROS/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease. (Letter)</strong> J. Allergy Clin. Immun. 143: 782-785, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30312704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30312704</a>] [<a href="https://doi.org/10.1016/j.jaci.2018.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30312704">Thomas et al. (2019)</a> identified a homozygous splice site mutation in the CYBC1 gene (<a href="#0001">618334.0001</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database. Western blot analysis of patient T cells showed undetectable CYBC1 protein levels, and patient neutrophils showed impaired respiratory burst activity, consistent with a functional defect in NADPH oxidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28600779+30312704" 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 2 Icelandic brothers with CGD5, <a href="#1" class="mim-tip-reference" title="Arnadottir, G. A., Norddahl, G. L., Gudmundsdottir, S., Agustsdottir, A. B., Sigurdsson, S., Jensson, B. O., Bjarnadottir, K., Theodors, F., Benonisdottir, S. Ivarsdottir, E. V., Oddsson, A., Kristjansson, R. P., and 23 others. <strong>A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.</strong> Nature Commun. 9: 4447, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30361506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30361506</a>] [<a href="https://doi.org/10.1038/s41467-018-06964-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30361506">Arnadottir et al. (2018)</a> identified a homozygous nonsense mutation in the CYBC1 gene (Y2X; <a href="#0002">618334.0002</a>). The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not present in the gnomAD database. Further analysis of a large Icelandic dataset identified 6 additional patients with a similar phenotype who were homozygous for Y2X. Western blot analysis of lymphocytes derived from 2 patients showed absence of the full-length protein. Functional studies showed strongly impaired PMA-induced oxidative burst in neutrophils from 1 patient. The frequency of the variant in Iceland was estimated to be 1 in 70, consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30361506" 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="#6" class="mim-tip-reference" title="Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others. <strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong> J. Exp. Med. 214: 1111-1128, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al. (2017)</a> found that Eros -/- mice were highly susceptible to infection with Salmonella enterica serovar Typhimurium and Listeria monocytogenes, but not Citrobacter rodentium. Phagocyte respiratory burst was highly impaired in Eros -/- macrophages and neutrophils, and Eros -/- macrophages failed to control intracellular Salmonella replication. Eros -/- mice failed to form neutrophil extracellular traps (NETS), but were resistant to melanoma metastasis. Neutrophils and macrophages from Eros -/- mice exhibited severely reduced expression of gp91phox and p22phox. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1166871048 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1166871048;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/rs1166871048?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=rs1166871048" 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=rs1166871048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient (16W-0243), born of Saudi Arabian parents, with autosomal recessive chronic granulomatous disease-5 (CGD5; <a href="/entry/618935">618935</a>), <a href="#3" class="mim-tip-reference" title="Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., and 95 others. <strong>The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.</strong> Hum. Genet. 136: 921-939, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28600779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28600779</a>] [<a href="https://doi.org/10.1007/s00439-017-1821-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28600779">Monies et al. (2017)</a> identified a homozygous c.127G-A transition (c.127G-A, NM_001033046) in exon 3 of the CYBC1 gene, predicted to result in an asp43-to-asn (D43N) substitution. In a follow-up report, <a href="#5" class="mim-tip-reference" title="Thomas, D. C., Charbonnier, L.-M., Schejtman, A., Aldhekri, H., Coomber, E. L., Dufficy, E. R., Beenken, A. E., Lee,, J. C., Clare, S., Speak, A. O., Thrasher A. J., Santilli, G., Al-Mousa, H., Alkuraya, F. S., Chatila, T. A., Smith, K. G. C. <strong>EROS/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease. (Letter)</strong> J. Allergy Clin. Immun. 143: 782-785, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30312704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30312704</a>] [<a href="https://doi.org/10.1016/j.jaci.2018.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30312704">Thomas et al. (2019)</a> noted that the mutation was predicted to disrupt splicing. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database or in 3,300 ethnically matched exomes. Western blot analysis of patient T cells showed undetectable CYBC1 protein levels, and patient neutrophils showed impaired respiratory burst activity, consistent with a functional defect in NADPH oxidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28600779+30312704" 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 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5</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> rs778180128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs778180128;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/rs778180128?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=rs778180128" 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=rs778180128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Icelandic brothers with autosomal recessive chronic granulomatous disease-5 (CGD5; <a href="/entry/618935">618935</a>), <a href="#1" class="mim-tip-reference" title="Arnadottir, G. A., Norddahl, G. L., Gudmundsdottir, S., Agustsdottir, A. B., Sigurdsson, S., Jensson, B. O., Bjarnadottir, K., Theodors, F., Benonisdottir, S. Ivarsdottir, E. V., Oddsson, A., Kristjansson, R. P., and 23 others. <strong>A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.</strong> Nature Commun. 9: 4447, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30361506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30361506</a>] [<a href="https://doi.org/10.1038/s41467-018-06964-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30361506">Arnadottir et al. (2018)</a> identified a homozygous c.6C-G transversion (c.6C-G, NM_001033046.3) in the CYBC1 gene, resulting in a tyr2-to-ter (Y2X) substitution. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not present in the gnomAD database. Further analysis of a large Icelandic dataset identified 6 additional patients with a similar phenotype who were homozygous for Y2X. Western blot analysis of lymphocytes derived from 2 patients showed absence of the full-length protein. Monocyte-derived macrophages from these 2 patients showed absence of the gp91phox protein (CYBB; <a href="/entry/300481">300481</a>), whereas neutrophils, available from only 1 patient, showed a 50% reduction in gp91phox. Functional studies showed strongly impaired PMA-induced oxidative burst in neutrophils from 1 patient. The frequency of the variant in Iceland was estimated to be 1 in 70, consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30361506" 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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Arnadottir, G. A., Norddahl, G. L., Gudmundsdottir, S., Agustsdottir, A. B., Sigurdsson, S., Jensson, B. O., Bjarnadottir, K., Theodors, F., Benonisdottir, S. Ivarsdottir, E. V., Oddsson, A., Kristjansson, R. P., and 23 others.
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<strong>A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.</strong>
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Nature Commun. 9: 4447, 2018. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30361506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30361506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30361506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41467-018-06964-x" target="_blank">Full Text</a>]
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/19/2019.
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Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., and 95 others.
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<strong>The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.</strong>
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Hum. Genet. 136: 921-939, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28600779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28600779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28600779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-017-1821-8" target="_blank">Full Text</a>]
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Ryoden, Y., Fujii, T., Segawa, K., Nagata, S.
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<strong>Functional expression of the P2X7 ATP receptor requires Eros.</strong>
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J. Immun. 204: 559-568, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31862710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31862710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31862710" 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/10.4049/jimmunol.1900448" target="_blank">Full Text</a>]
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Thomas, D. C., Charbonnier, L.-M., Schejtman, A., Aldhekri, H., Coomber, E. L., Dufficy, E. R., Beenken, A. E., Lee,, J. C., Clare, S., Speak, A. O., Thrasher A. J., Santilli, G., Al-Mousa, H., Alkuraya, F. S., Chatila, T. A., Smith, K. G. C.
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<strong>EROS/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease. (Letter)</strong>
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J. Allergy Clin. Immun. 143: 782-785, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30312704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30312704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30312704" 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.jaci.2018.09.019" target="_blank">Full Text</a>]
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Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others.
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<strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong>
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J. Exp. Med. 214: 1111-1128, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 07/02/2020
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Bao Lige - updated : 04/14/2020<br>Matthew B. Gross - updated : 02/19/2019
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Bao Lige : 02/19/2019
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carol : 07/06/2020<br>ckniffin : 07/02/2020<br>mgross : 04/14/2020<br>carol : 02/21/2019<br>mgross : 02/19/2019<br>mgross : 02/19/2019
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ESSENTIAL FOR REACTIVE OXYGEN SPECIES; EROS<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17q25.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:82,442,586-82,450,752 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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17q25.3
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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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Chronic granulomatous disease 5, autosomal recessive
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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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618935
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CYBC1 is a transmembrane protein that plays an essential role in innate immunity by controlling the phagocyte respiratory burst, which prevents overwhelming infection (Thomas et al., 2017). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Thomas et al. (2017) reported that mouse Cybc1, which they termed Eros, has 2 transmembrane helices in its N-terminal half and cytoplasmic N and C termini. Mouse and human EROS share approximately 89% amino acid identity. Database analysis indicated that mouse Eros is highly expressed in cells of the innate immune system, particularly neutrophils, monocytes, and macrophages. Microarray analysis of human blood subsets detected highest EROS expression in neutrophils and monocytes. Microscopic analyses of transfected mouse macrophages and HEK293T cells showed that mouse Eros localized to the endoplasmic reticulum (ER). Bioinformatic analysis identified EROS orthologs in all vertebrates, as well as in some lower-order animals, including poriferan sponges and sea urchins. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2019) mapped the CYBC1 gene to chromosome 17q25.3 based on an alignment of the CYBC1 sequence (GenBank BC004171) with the genomic sequence (GRCh38).</p><p>Thomas et al. (2017) stated that the mouse Cybc1 gene maps to chromosome 11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By microscopic analyses of transfected mouse macrophages and HEK293T cells, Thomas et al. (2017) demonstrated that Eros colocalized in the ER with gp91phox (CYBB; 300481) and p22phox (CYBA; 608508), 2 essential membrane-bound components of cytochrome b558. Coimmunoprecipitation analysis showed that Eros interacted directly with gp91phox. Based on studies of neutrophils and macrophages from Eros -/- mice (see ANIMAL MODEL), the authors found that Eros was required for expression of gp91phox and p22phox, suggesting that Eros controls gp91phx and p22phox degradation in the ER. </p><p>Ryoden et al. (2020) found that P2X7 (P2RX7; 602566) mediated phosphatidylserine exposure in mouse and human cells in response to extracellular ATP. For this function, P2X7 required EROS to be expressed at the plasma membrane. EROS localized to the endoplasmic reticulum, where it interacted with P2X7 and assisted its folding by functioning as a chaperone. P2X7 then moved to the plasma membrane, where it was present as a homotrimeric complex. EROS was also required for P2X7-mediated production of IL1-beta (IL1B; 147720) triggered by ATP in macrophages. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In a patient, born of Saudi Arabian parents, with autosomal recessive chronic granulomatous disease-5 (CGD5; 618935), Monies et al. (2017) and Thomas et al. (2019) identified a homozygous splice site mutation in the CYBC1 gene (618334.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database. Western blot analysis of patient T cells showed undetectable CYBC1 protein levels, and patient neutrophils showed impaired respiratory burst activity, consistent with a functional defect in NADPH oxidase. </p><p>In 2 Icelandic brothers with CGD5, Arnadottir et al. (2018) identified a homozygous nonsense mutation in the CYBC1 gene (Y2X; 618334.0002). The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not present in the gnomAD database. Further analysis of a large Icelandic dataset identified 6 additional patients with a similar phenotype who were homozygous for Y2X. Western blot analysis of lymphocytes derived from 2 patients showed absence of the full-length protein. Functional studies showed strongly impaired PMA-induced oxidative burst in neutrophils from 1 patient. The frequency of the variant in Iceland was estimated to be 1 in 70, consistent with a founder effect. </p>
|
|
</span>
|
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Thomas et al. (2017) found that Eros -/- mice were highly susceptible to infection with Salmonella enterica serovar Typhimurium and Listeria monocytogenes, but not Citrobacter rodentium. Phagocyte respiratory burst was highly impaired in Eros -/- macrophages and neutrophils, and Eros -/- macrophages failed to control intracellular Salmonella replication. Eros -/- mice failed to form neutrophil extracellular traps (NETS), but were resistant to melanoma metastasis. Neutrophils and macrophages from Eros -/- mice exhibited severely reduced expression of gp91phox and p22phox. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
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</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBC1, 127G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1166871048,
|
|
|
|
|
|
gnomAD: rs1166871048,
|
|
|
|
|
|
ClinVar: RCV001200059, RCV002240826
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (16W-0243), born of Saudi Arabian parents, with autosomal recessive chronic granulomatous disease-5 (CGD5; 618935), Monies et al. (2017) identified a homozygous c.127G-A transition (c.127G-A, NM_001033046) in exon 3 of the CYBC1 gene, predicted to result in an asp43-to-asn (D43N) substitution. In a follow-up report, Thomas et al. (2019) noted that the mutation was predicted to disrupt splicing. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database or in 3,300 ethnically matched exomes. Western blot analysis of patient T cells showed undetectable CYBC1 protein levels, and patient neutrophils showed impaired respiratory burst activity, consistent with a functional defect in NADPH oxidase. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBC1, TYR2TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs778180128,
|
|
|
|
|
|
gnomAD: rs778180128,
|
|
|
|
|
|
ClinVar: RCV001200060
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Icelandic brothers with autosomal recessive chronic granulomatous disease-5 (CGD5; 618935), Arnadottir et al. (2018) identified a homozygous c.6C-G transversion (c.6C-G, NM_001033046.3) in the CYBC1 gene, resulting in a tyr2-to-ter (Y2X) substitution. The mutation, which was found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not present in the gnomAD database. Further analysis of a large Icelandic dataset identified 6 additional patients with a similar phenotype who were homozygous for Y2X. Western blot analysis of lymphocytes derived from 2 patients showed absence of the full-length protein. Monocyte-derived macrophages from these 2 patients showed absence of the gp91phox protein (CYBB; 300481), whereas neutrophils, available from only 1 patient, showed a 50% reduction in gp91phox. Functional studies showed strongly impaired PMA-induced oxidative burst in neutrophils from 1 patient. The frequency of the variant in Iceland was estimated to be 1 in 70, consistent with a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arnadottir, G. A., Norddahl, G. L., Gudmundsdottir, S., Agustsdottir, A. B., Sigurdsson, S., Jensson, B. O., Bjarnadottir, K., Theodors, F., Benonisdottir, S. Ivarsdottir, E. V., Oddsson, A., Kristjansson, R. P., and 23 others.
|
|
<strong>A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.</strong>
|
|
Nature Commun. 9: 4447, 2018. Note: Electronic Article.
|
|
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|
|
[PubMed: 30361506]
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|
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[Full Text: https://doi.org/10.1038/s41467-018-06964-x]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 2/19/2019.
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., and 95 others.
|
|
<strong>The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.</strong>
|
|
Hum. Genet. 136: 921-939, 2017.
|
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|
|
[PubMed: 28600779]
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[Full Text: https://doi.org/10.1007/s00439-017-1821-8]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ryoden, Y., Fujii, T., Segawa, K., Nagata, S.
|
|
<strong>Functional expression of the P2X7 ATP receptor requires Eros.</strong>
|
|
J. Immun. 204: 559-568, 2020.
|
|
|
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|
|
[PubMed: 31862710]
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|
|
[Full Text: https://doi.org/10.4049/jimmunol.1900448]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Thomas, D. C., Charbonnier, L.-M., Schejtman, A., Aldhekri, H., Coomber, E. L., Dufficy, E. R., Beenken, A. E., Lee,, J. C., Clare, S., Speak, A. O., Thrasher A. J., Santilli, G., Al-Mousa, H., Alkuraya, F. S., Chatila, T. A., Smith, K. G. C.
|
|
<strong>EROS/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease. (Letter)</strong>
|
|
J. Allergy Clin. Immun. 143: 782-785, 2019.
|
|
|
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|
|
[PubMed: 30312704]
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[Full Text: https://doi.org/10.1016/j.jaci.2018.09.019]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others.
|
|
<strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong>
|
|
J. Exp. Med. 214: 1111-1128, 2017.
|
|
|
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|
|
[PubMed: 28351984]
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[Full Text: https://doi.org/10.1084/jem.20161382]
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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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Cassandra L. Kniffin - updated : 07/02/2020<br>Bao Lige - updated : 04/14/2020<br>Matthew B. Gross - updated : 02/19/2019
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</span>
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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 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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Bao Lige : 02/19/2019
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</span>
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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 : 07/07/2020<br>carol : 07/06/2020<br>ckniffin : 07/02/2020<br>mgross : 04/14/2020<br>carol : 02/21/2019<br>mgross : 02/19/2019<br>mgross : 02/19/2019
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</span>
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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