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Entry
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- *608508 - CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608508</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/608508">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li 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>
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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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<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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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000051523;t=ENST00000261623" 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=1535" 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=608508" 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 class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000051523;t=ENST00000261623" 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_000101,XM_011522905" 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_000101" 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=608508" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01989&isoform_id=01989_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CYBA" 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/181236,189106,13623677,30384987,30582561,68509914,94470219,119587197,119587198,119587199,119587200,194390192,311033459,767989478,2462547718" 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/P13498" 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=1535" 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=ENSG00000051523;t=ENST00000261623" 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=CYBA" 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=CYBA" 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+1535" 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/CYBA" 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:1535" 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/1535" 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=chr16&hgg_gene=ENST00000261623.8&hgg_start=88643289&hgg_end=88651053&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div 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://medlineplus.gov/genetics/gene/cyba" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608508[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608508[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000051523" 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=CYBA" 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=CYBA" 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=CYBA" 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="http://structure.bmc.lu.se/idbase/CYBAbase/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CYBA&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/PA27075" 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:2577" 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:1316658" 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/CYBA#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:1316658" 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/1535/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=1535" 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-040426-1526" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1535" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CYBA&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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608508
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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(-245), ALPHA SUBUNIT; CYBA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CYTOCHROME b(558), ALPHA SUBUNIT<br />
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p22-PHOX<br />
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CYTOCHROME b LIGHT CHAIN
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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=CYBA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CYBA</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/16/730?start=-3&limit=10&highlight=730">16q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:88643289-88651053&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'})">16:88,643,289-88,651,053</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/16/730?start=-3&limit=10&highlight=730">
|
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16q24.2
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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 4, 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/233690"> 233690 </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/608508" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608508" 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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<p>The CYBA gene encodes the alpha subunit, also known as the light chain, of cytochrome b(-245), which is a component of the NADPH oxidase (NOX) complex responsible for the respiratory burst in phagocytes.</p><p>The CYBB gene (<a href="/entry/300481">300481</a>) is an X-linked gene which encodes the cytochrome b beta subunit, also known as the heavy chain.</p><p><a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> and <a href="#16" class="mim-tip-reference" title="Schapiro, B. L., Newburger, P. E., Klempner, M. S., Dinauer, M. C. <strong>Chronic granulomatous disease presenting in a 69-year-old man.</strong> New Eng. J. Med. 325: 1786-1790, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719419</a>] [<a href="https://doi.org/10.1056/NEJM199112193252506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1719419">Schapiro et al. (1991)</a> referred to the 22-kD gene product as p22-phox (for phagocyte oxidase). <a href="#6" class="mim-tip-reference" title="de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D. <strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong> Am. J. Hum. Genet. 51: 1127-1135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415254</a>]" pmid="1415254">De Boer et al. (1992)</a> referred to the product of the CYBA gene as the alpha subunit of cytochrome b(558) or p22-phox. They mentioned an international agreement on designations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1719419+1415254+2243141" 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 screening a cDNA library constructed from human promyelocytic leukemia cells, <a href="#14" class="mim-tip-reference" title="Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J., Orkin, S. H. <strong>Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.</strong> Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368442</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368442">Parkos et al. (1988)</a> isolated a cDNA corresponding to the light chain of cytochrome b. The cDNA encodes a 195-amino acid protein with a high proline content (10%) and a molecular mass of 22 kD. A database search showed that a 31-residue region of the protein is 39% identical to a corresponding region of the heme-bearing subunit (polypeptide I) of mitochondrial cytochrome c oxidase (MTCO1; <a href="/entry/516030">516030</a>). Northern blot analysis detected a 0.8-kb mRNA transcript in all cell lines tested, including phagocytes, hepatic cells, endothelial cells, B cells, and erythroleukemic cells, but the 22-kD protein was barely detectable in the nonphagocytic cells, suggesting a block in translation in these cells. The stable protein was detected only in phagocytic cells that were also expressing the larger cytochrome b subunit, p91-phox. <a href="#14" class="mim-tip-reference" title="Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J., Orkin, S. H. <strong>Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.</strong> Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368442</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368442">Parkos et al. (1988)</a> concluded that the large subunit may play a role in regulating the assembly of the heterodimeric cytochrome b. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3368442" 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="#9" class="mim-tip-reference" title="Fukui, T., Lassegue, B., Kai, H., Alexander, R. W., Griendling, K. K. <strong>Cytochrome b-558 alpha-subunit cloning and expression in rat aortic smooth muscle cells.</strong> Biochim. Biophys. Acta 1231: 215-219, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7578211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7578211</a>] [<a href="https://doi.org/10.1016/0005-2728(95)00098-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7578211">Fukui et al. (1995)</a> isolated a cDNA for the cytochrome b alpha subunit (p22-phox) of the NADPH oxidase in rat vascular smooth muscle cells (VSMCs) and showed that the rat gene is homologous to both the human and mouse genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7578211" 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="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> determined that the CYBA gene contains 6 exons and spans 8.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" 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>Using Southern blot analysis of DNA from human-rodent somatic cell hybrids, <a href="#4" class="mim-tip-reference" title="Bu-Ghanim, H. N., Casimir, C. M., Povey, S., Segal, A. W. <strong>The alpha subunit of cytochrome b(-245) mapped to chromosome 16.</strong> Genomics 8: 568-570, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2286377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2286377</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90045-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2286377">Bu-Ghanim et al. (1990)</a> demonstrated that the alpha subunit is encoded by a single locus (CYBA) on chromosome 16. By a combination of Southern blot analysis of somatic cell hybrids and in situ hybridization, <a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> mapped the CYBA gene to 16q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2243141+2286377" 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>By genomic sequence analysis, <a href="#15" class="mim-tip-reference" title="Powell, J. A., Gardner, A. E., Bais, A. J., Hinze, S. J., Baker, E., Whitmore, S., Crawford, J., Kochetkova, M., Spendlove, H. E., Doggett, N. A., Sutherland, G. R., Callen, D. F., Kremmidiotis, G. <strong>Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.</strong> Genomics 80: 303-310, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12213200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12213200</a>] [<a href="https://doi.org/10.1006/geno.2002.6828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12213200">Powell et al. (2002)</a> mapped the CYBA gene to chromosome 16q24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12213200" 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="#20" class="mim-tip-reference" title="Ushio-Fukai, M., Zafari, A. M., Fukui, T., Ishizaka, N., Griendling, K. <strong>p22-phox is a critical component of the superoxide-generating NADH/NADPH oxidase system and regulates angiotensin II-induced hypertrophy in vascular smooth muscle cells.</strong> J. Biol. Chem. 271: 23317-23321, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798532</a>] [<a href="https://doi.org/10.1074/jbc.271.38.23317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798532">Ushio-Fukai et al. (1996)</a> provided evidence that p22-phox is a critical component of the superoxide-generating vascular NADH/NADPH oxidase. They stably transfected antisense p22-phox cDNA into rat VSMCs and showed that this results in decreased cytochrome-b content and superoxide production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798532" 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>Superoxide anion (O2-) formation occurs in phagocytic cells, such as neutrophils, macrophages, and monocytes, and is important for the microbicidal activity of these cells. The production of superoxide anion is not limited to these cell types, however, and has been implicated in the pathogenesis of both hypertension and atherosclerosis (<a href="#1" class="mim-tip-reference" title="Alexander, R. W. <strong>Hypertension and the pathogenesis of atherosclerosis. Oxidative stress and the mediation of arterial inflammatory response: a new perspective.</strong> Hypertension 25: 155-161, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7843763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7843763</a>] [<a href="https://doi.org/10.1161/01.hyp.25.2.155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7843763">Alexander, 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7843763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Yazdanpanah, B., Wiegmann, K., Tchikov, V., Krut, O., Pongratz, C., Schramm, M., Kleinridders, A., Wunderlich, T., Kashkar, H., Utermohlen, O., Bruning, J. C., Schutze, S., Kronke, M. <strong>Riboflavin kinase couples TNF receptor 1 to NADPH oxidase.</strong> Nature 460: 1159-1163, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641494</a>] [<a href="https://doi.org/10.1038/nature08206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19641494">Yazdanpanah et al. (2009)</a> identified riboflavin kinase (RFK, formerly known as flavokinase; <a href="/entry/613010">613010</a>) as a TNFR1 (<a href="/entry/191190">191190</a>)-binding protein that physically and functionally couples TNFR1 to NADPH oxidase (<a href="/entry/300225">300225</a>). In mouse and human cells, RFK binds to both the TNFR1 death domain and to p22(phox), the common subunit of NADPH oxidase isoforms. RFK-mediated bridging of TNFR1 and p22(phox) is a prerequisite for TNF-induced but not for Toll-like receptor (see <a href="/entry/601194">601194</a>)-induced reactive oxygen species (ROS) production. Exogenous flavin mononucleotide or FAD was able to substitute fully for TNF stimulation of NADPH oxidase in RFK-deficient cells. RFK is rate-limiting in the synthesis of FAD, an essential prosthetic group of NADPH oxidase. <a href="#22" class="mim-tip-reference" title="Yazdanpanah, B., Wiegmann, K., Tchikov, V., Krut, O., Pongratz, C., Schramm, M., Kleinridders, A., Wunderlich, T., Kashkar, H., Utermohlen, O., Bruning, J. C., Schutze, S., Kronke, M. <strong>Riboflavin kinase couples TNF receptor 1 to NADPH oxidase.</strong> Nature 460: 1159-1163, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641494</a>] [<a href="https://doi.org/10.1038/nature08206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19641494">Yazdanpanah et al. (2009)</a> concluded that TNF, through the activation of RFK, enhances the incorporation of FAD in NADPH oxidase enzymes, a critical step for the assembly and activation of NADPH oxidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19641494" 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>By microscopic analyses of transfected mouse macrophages and HEK293T cells, <a href="#19" 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://www.ncbi.nlm.nih.gov/pmc/?term=28351984[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al. (2017)</a> demonstrated that Eros (CYBC1; <a href="/entry/618334">618334</a>) colocalized in the endoplasmic reticulum (ER) with gp91phox and p22phox. Coimmunoprecipitation analysis showed that Eros interacted directly with gp91phox. Based on studies of neutrophils and macrophages from Eros -/- mice, 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>
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In 3 patients with autosomal recessive cytochrome b-negative chronic granulomatous disease (CGD4; <a href="/entry/233690">233690</a>), <a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> identified 4 mutations in the CYBA gene (<a href="#0001">608508.0001</a>-<a href="#0004">608508.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" 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="#21" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y. <strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong> Brit. J. Haemat. 108: 511-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759707">Yamada et al. (2000)</a> performed mutation analysis on 3 female patients with cytochrome b-negative CGD4 and found 2 novel mutations in the CYBA gene. One patient with a severe phenotype had a homozygous nonsense mutation in exon 1 (<a href="#0009">608508.0009</a>); the other 2 patients with mild phenotypes shared the same homozygous missense mutation in exon 2 (<a href="#0010">608508.0010</a>). The latter 2 patients, but not the first, were demonstrated to have detectable p22-phox expression and significant granulocyte respiratory burst activity, consistent with the milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" 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="#18" class="mim-tip-reference" title="Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh, N. <strong>Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.</strong> Brit. J. Haemat. 141: 848-851, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18422995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18422995</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2008.07148.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18422995">Teimourian et al. (2008)</a> identified homozygous mutations or deletions in the CYBA gene (see, e.g., <a href="#0012">608508.0012</a>) in 8 patients from 7 unrelated consanguineous Iranian families with cytochrome b-negative CGD4. Patients had a clinical history of recurrent severe infections, including pneumonia, lymphadenitis, liver abscesses, and pyodermatitis. Four of the patients presented before 1 year of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18422995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Polymorphisms</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J., Orkin, S. H. <strong>Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.</strong> Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368442</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368442">Parkos et al. (1988)</a> described a 242C-T polymorphism of the CYBA gene causing a his72-to-tyr change (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4673;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4673</a>; <a href="#0008">608508.0008</a>). <a href="#3" class="mim-tip-reference" title="Bedard, K., Attar, H., Bonnefont, J., Jaquet, V., Borel, C., Plastre, O., Stasia, M.-J., Antonarakis, S. E., Krause, K.-H. <strong>Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.</strong> Hum. Mutat. 30: 1123-1133, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19388116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19388116</a>] [<a href="https://doi.org/10.1002/humu.21029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19388116">Bedard et al. (2009)</a> noted that the 242C-T SNP is also referred to as 214T-C (Y72H) based on numbering from the ATG codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19388116+3368442" 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="#10" class="mim-tip-reference" title="Inoue, N., Kawashima, S., Kanazawa, K., Yamada, S., Akita, H., Yokoyama, M. <strong>Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease.</strong> Circulation 97: 135-137, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445163</a>] [<a href="https://doi.org/10.1161/01.cir.97.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9445163">Inoue et al. (1998)</a> reported that the presence of the 242T polymorphism was associated with reduced risk of coronary artery disease (CAD) in Japanese. This was significant since patients with CAD have impaired endothelial function in part due to an increase in vascular oxidant stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9445163" 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="#11" class="mim-tip-reference" title="Li, A., Prasad, A., Mincemoyer, R., Satorius, C., Epstein, N., Finkel, T., Quyyumi, A. A. <strong>Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function.</strong> Am. J. Med. Genet. 86: 57-61, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440830</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<57::aid-ajmg11>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10440830">Li et al. (1999)</a> studied the frequency of the 242T polymorphism in 252 U.S. patients (83% Caucasian) who underwent angiography for the diagnosis of CAD. The prevalence of the 242T allele was not different in 149 patients with CAD compared to 103 patients with angiographically normal coronary arteries. There were also no significant differences in coronary epicardial or microvascular responses to acetylcholine or sodium nitroprusside between the groups of patients with or without the 242T allele. In the overall study population of 252 patients, the CC genotype was found in 39%, TC in 45%, and TT in 16%, giving a T allele frequency of 0.34 in patients with normal coronary arteries and 0.42 in CAD patients, with a trend in the direction opposite to that observed in the Japanese population by <a href="#10" class="mim-tip-reference" title="Inoue, N., Kawashima, S., Kanazawa, K., Yamada, S., Akita, H., Yokoyama, M. <strong>Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease.</strong> Circulation 97: 135-137, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445163</a>] [<a href="https://doi.org/10.1161/01.cir.97.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9445163">Inoue et al. (1998)</a>. The frequency of the T allele was nearly 4 times higher in the U.S. population than in the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9445163+10440830" 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="#12" class="mim-tip-reference" title="Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B. <strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong> J. Clin. Invest. 118: 1176-1185, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18292807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18292807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18292807[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18292807">Nakano et al. (2008)</a> found that induced-mutant nmf333 mice were deficient in p22-phox protein due to a tyr121-to-his (Y121H) mutation in the Cyba gene. Homozygous mutant mice showed chronic granulomatous disease characterized by absence of superoxide production in phagocytes and complete absence of NADPH oxidase activity. The mutant mice were highly susceptible to fatal necrotizing B. cepacia pneumonia. In addition, mutant mice showed a severe balance disorder associated with complete absence of otoconia in the utricles and saccules of the inner ear. Transgenic expression of wildtype Cyba rescued both phenotypes. Studies on wildtype mice found Cyba expression in the endolymphatic ducts of the embryonic inner ear, which decreased by postnatal day 12. Based on these findings, <a href="#12" class="mim-tip-reference" title="Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B. <strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong> J. Clin. Invest. 118: 1176-1185, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18292807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18292807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18292807[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18292807">Nakano et al. (2008)</a> proposed that NOX activity in the endolymph of the embryonic inner ear regulates local ionic conditions and pH, which may favor the crystallization of calcium carbonate and thereby promote the formation of otoconia. However, the authors noted that balance disorders had not been described in humans with CYBA-associated disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18292807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608508[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a patient with autosomal recessive cytochrome b-negative CGD-4 (CGD4; <a href="/entry/233690">233690</a>), whose parents were first cousins, <a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> found homozygosity for a large deletion, approximately 10 kb, in the CYBA gene that removed all but the extreme 5-prime coding sequence of the CYBA gene. The patient had originally been reported by <a href="#2" class="mim-tip-reference" title="Baehner, R. L., Nathan, D. G. <strong>Quantitative nitroblue tetrazolium test in chronic granulomatous disease.</strong> New Eng. J. Med. 278: 971-976, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4384563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4384563</a>] [<a href="https://doi.org/10.1056/NEJM196805022781801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4384563">Baehner and Nathan (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2243141+4384563" 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">rs1439134665 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1439134665;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1439134665" 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=rs1439134665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000757945 OR RCV001816812 OR RCV004757277" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000757945, RCV001816812, RCV004757277" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000757945...</a>
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<p>In a patient with autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), <a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> identified compound heterozygous mutations in the CYBA gene: a 1-bp deletion (c.272delC), resulting in a frameshift and premature termination, and a c.297G-A transition, resulting in an arg90-to-gln (R90Q) substitution (<a href="#0003">608508.0003</a>). The patient had previously been reported by <a href="#5" class="mim-tip-reference" title="Curnutte, J. T., Kuver, R., Scott, P. J. <strong>Activation of neutrophil NADPH oxidase in a cell-free system: partial purification of components and characterization of the activation process.</strong> J. Biol. Chem. 262: 5563-5569, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3571224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3571224</a>]" pmid="3571224">Curnutte et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3571224+2243141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</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> rs104894513 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894513;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/rs104894513?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=rs104894513" 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=rs104894513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the arg90-to-gln (R90Q) mutation in the CYBA gene that was found in compound heterozygous state in a patient with autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>) by <a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a>, see <a href="#0002">608508.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" 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="#6" class="mim-tip-reference" title="de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D. <strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong> Am. J. Hum. Genet. 51: 1127-1135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415254</a>]" pmid="1415254">De Boer et al. (1992)</a> reported 3 patients with cytochrome b-negative CGD from 1 family with first-cousin parents who were homozygous for the R90Q mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</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> rs104894514 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894514;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/rs104894514?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=rs104894514" 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=rs104894514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002347 OR RCV000059045 OR RCV001731273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002347, RCV000059045, RCV001731273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002347...</a>
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<p>In a patient with autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), whose parents were second cousins, <a href="#7" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> found homozygosity for a 382C-A transversion, resulting in a ser118-to-arg (S118R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</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> rs104894515 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894515;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/rs104894515?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=rs104894515" 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=rs104894515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002348 OR RCV000208600" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002348, RCV000208600" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002348...</a>
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<p>In a 22-year-old Caucasian female with autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>) who was the offspring of consanguineous parents, <a href="#8" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Erickson, R. W., Muhlebach, T. J., Messner, H., Orkin, S. H., Seger, R. A., Curnutte, J. T. <strong>Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.</strong> Proc. Nat. Acad. Sci. 88: 11231-11235, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1763037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1763037</a>] [<a href="https://doi.org/10.1073/pnas.88.24.11231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1763037">Dinauer et al. (1991)</a> identified a homozygous C-to-A transversion in the CYBA gene that predicted a nonconservative pro156-to-gln (P156Q). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1763037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</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">rs104894510 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894510;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894510" 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=rs104894510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002349 OR RCV004799727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002349, RCV004799727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002349...</a>
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<p>In a patient with autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), offspring of first-cousin parents, <a href="#6" class="mim-tip-reference" title="de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D. <strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong> Am. J. Hum. Genet. 51: 1127-1135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415254</a>]" pmid="1415254">de Boer et al. (1992)</a> found homozygosity for a 309A-G transition in the CYBA gene, resulting in a nonconservative amino acid replacement, his94-to-arg (H94R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</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">rs1567609091 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1567609091;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1567609091" 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=rs1567609091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002350" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002350" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002350</a>
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<p>In a patient with cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), who was born of first-cousin parents, <a href="#6" class="mim-tip-reference" title="de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D. <strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong> Am. J. Hum. Genet. 51: 1127-1135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415254</a>]" pmid="1415254">de Boer et al. (1992)</a> found homozygosity for the absence of exon 4 in the CYBA gene. In this patient, a G-to-A transition was found at position 1 of intron 4; hence, deletion of exon 4 was a result of a splicing error. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415254" 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> rs4673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4673;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/rs4673?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=rs4673" 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=rs4673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002351 OR RCV000249071 OR RCV000736011 OR RCV000989646 OR RCV001723534 OR RCV001826406" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002351, RCV000249071, RCV000736011, RCV000989646, RCV001723534, RCV001826406" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002351...</a>
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<p><a href="#14" class="mim-tip-reference" title="Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J., Orkin, S. H. <strong>Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.</strong> Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368442</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368442">Parkos et al. (1988)</a> identified a 242C-T polymorphism (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4673;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4673</a>) in exon 4 of the CYBA gene, leading to a his72-to-tyr (H72Y) substitution. Data on its frequency in Japanese (<a href="#10" class="mim-tip-reference" title="Inoue, N., Kawashima, S., Kanazawa, K., Yamada, S., Akita, H., Yokoyama, M. <strong>Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease.</strong> Circulation 97: 135-137, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445163</a>] [<a href="https://doi.org/10.1161/01.cir.97.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9445163">Inoue et al., 1998</a>) and U.S. (<a href="#11" class="mim-tip-reference" title="Li, A., Prasad, A., Mincemoyer, R., Satorius, C., Epstein, N., Finkel, T., Quyyumi, A. A. <strong>Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function.</strong> Am. J. Med. Genet. 86: 57-61, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440830</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<57::aid-ajmg11>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10440830">Li et al., 1999</a>) populations have been reported. <a href="#3" class="mim-tip-reference" title="Bedard, K., Attar, H., Bonnefont, J., Jaquet, V., Borel, C., Plastre, O., Stasia, M.-J., Antonarakis, S. E., Krause, K.-H. <strong>Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.</strong> Hum. Mutat. 30: 1123-1133, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19388116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19388116</a>] [<a href="https://doi.org/10.1002/humu.21029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19388116">Bedard et al. (2009)</a> noted that the 242C-T SNP is also referred to as 214T-C (Y72H) based on numbering from the ATG codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19388116+9445163+10440830+3368442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reactive Oxygen Species Generation</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Bedard, K., Attar, H., Bonnefont, J., Jaquet, V., Borel, C., Plastre, O., Stasia, M.-J., Antonarakis, S. E., Krause, K.-H. <strong>Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.</strong> Hum. Mutat. 30: 1123-1133, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19388116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19388116</a>] [<a href="https://doi.org/10.1002/humu.21029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19388116">Bedard et al. (2009)</a> analyzed 7 CYBA polymorphisms and NOX2-dependent reactive oxygen species (ROS) generation in 50 unrelated healthy Caucasian individuals. The authors identified 11 haplotypes, which could be grouped into 7 haplogroups. Only 1 haplogroup, designated 'C' and containing the 214T-C, 521T-C (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1049254;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1049254</a>, 549C-T, V174A), and the 3-prime UTR 24G-A (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1049255;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1049255</a>, 640A-G) SNPs, had a significant effect on ROS production, showing markedly reduced ROS generation compared to other haplotypes. Although functional analysis demonstrated significantly reduced reporter gene activity with the A allele of the 3-prime UTR SNP 24G-A compared to the G allele (p = 0.0055), haplotype analysis indicated that the observed effect on ROS production was due to the strong contribution of haplotype C. <a href="#3" class="mim-tip-reference" title="Bedard, K., Attar, H., Bonnefont, J., Jaquet, V., Borel, C., Plastre, O., Stasia, M.-J., Antonarakis, S. E., Krause, K.-H. <strong>Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.</strong> Hum. Mutat. 30: 1123-1133, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19388116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19388116</a>] [<a href="https://doi.org/10.1002/humu.21029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19388116">Bedard et al. (2009)</a> suggested that inconsistencies found in published reports might be due to the analysis of individual SNPs rather than haplotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19388116" 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> rs104894511 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894511;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/rs104894511?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=rs104894511" 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=rs104894511" 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 33-year-old Japanese woman with cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), <a href="#21" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y. <strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong> Brit. J. Haemat. 108: 511-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759707">Yamada et al. (2000)</a> demonstrated homozygosity for a nonsense mutation in exon 1 of the CYBA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" 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> rs28941476 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28941476;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/rs28941476?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=rs28941476" 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=rs28941476" 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 presumably unrelated Japanese patients with mild cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), <a href="#21" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y. <strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong> Brit. J. Haemat. 108: 511-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759707">Yamada et al. (2000)</a> identified homozygosity for a 98G-A transition in exon 2 of the CYBA gene, resulting in a gly24-to-arg (G24R) substitution. Since the mutation was identified in 2 such patients and since the parents in neither case were related, <a href="#21" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y. <strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong> Brit. J. Haemat. 108: 511-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759707">Yamada et al. (2000)</a> suggested that this may be a relatively common mutation in the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" 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">rs1907271302 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1907271302;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1907271302" 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=rs1907271302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002354" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002354" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002354</a>
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<p><a href="#17" class="mim-tip-reference" title="Stasia, M. J., Bordigoni, P., Martel, C., Morel, F. <strong>A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4.</strong> Hum. Genet. 110: 444-450, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12073015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12073015</a>] [<a href="https://doi.org/10.1007/s00439-002-0720-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12073015">Stasia et al. (2002)</a> used RT-PCR amplification and sequencing to demonstrate a mutation in the p22-PHOX mRNA in a patient with autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>). The defect was a 179-bp insertion associated with a 21-bp deletion of the beginning of exon 5 at position 315 from the translation start codon of the cDNA. This defect was also detected in the patient's parents. In the genomic DNA of the patient, the molecular defect was a homozygous 36-bp deletion in the linking sequence between intron 4 and exon 5. This genomic deletion corresponded to 15 bp of the 3-prime extremity of intron 4 and 21 bp of the beginning of exon 5 (the same deletion of exon 5 seen in the corresponding mRNA). The splicing mRNA error was attributable to the loss of the AG acceptor site of intron 4 and the utilization of a cryptic splice site with an AG sequence at position 355-356 of intron 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12073015" 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>.0012 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
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CYBA, ALA125THR
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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> rs119103269 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119103269;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/rs119103269?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=rs119103269" 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=rs119103269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002355" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002355" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002355</a>
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<p>In a patient with mild autosomal recessive cytochrome b-negative CGD (CGD4; <a href="/entry/233690">233690</a>), <a href="#18" class="mim-tip-reference" title="Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh, N. <strong>Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.</strong> Brit. J. Haemat. 141: 848-851, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18422995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18422995</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2008.07148.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18422995">Teimourian et al. (2008)</a> identified a homozygous 373G-A transition in exon 6 of the CYBA gene, resulting in an ala125-to-thr (A125T) substitution. The patient presented late at age 18 with pneumonia and liver abscesses, even though there was no detectable p22 protein and no reactive oxygen species production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18422995" 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>See Also:</strong>
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<a href="#Parkos1987" class="mim-tip-reference" title="Parkos, C. A., Allen, R. A., Cochrane, C. G., Jesaitis, A. J. <strong>Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000.</strong> J. Clin. Invest. 80: 732-742, 1987.">Parkos et al. (1987)</a>
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<strong>REFERENCES</strong>
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<a id="Alexander1995" class="mim-anchor"></a>
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Alexander, R. W.
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<strong>Hypertension and the pathogenesis of atherosclerosis. Oxidative stress and the mediation of arterial inflammatory response: a new perspective.</strong>
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Hypertension 25: 155-161, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7843763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7843763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7843763" 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/10.1161/01.hyp.25.2.155" target="_blank">Full Text</a>]
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Baehner, R. L., Nathan, D. G.
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<strong>Quantitative nitroblue tetrazolium test in chronic granulomatous disease.</strong>
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New Eng. J. Med. 278: 971-976, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4384563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4384563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4384563" 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/10.1056/NEJM196805022781801" target="_blank">Full Text</a>]
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<a id="Bedard2009" class="mim-anchor"></a>
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Bedard, K., Attar, H., Bonnefont, J., Jaquet, V., Borel, C., Plastre, O., Stasia, M.-J., Antonarakis, S. E., Krause, K.-H.
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<strong>Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.</strong>
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Hum. Mutat. 30: 1123-1133, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19388116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19388116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19388116" 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/10.1002/humu.21029" target="_blank">Full Text</a>]
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Bu-Ghanim, H. N., Casimir, C. M., Povey, S., Segal, A. W.
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<strong>The alpha subunit of cytochrome b(-245) mapped to chromosome 16.</strong>
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Genomics 8: 568-570, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2286377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2286377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2286377" 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/10.1016/0888-7543(90)90045-v" target="_blank">Full Text</a>]
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Curnutte, J. T., Kuver, R., Scott, P. J.
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<strong>Activation of neutrophil NADPH oxidase in a cell-free system: partial purification of components and characterization of the activation process.</strong>
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J. Biol. Chem. 262: 5563-5569, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3571224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3571224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3571224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D.
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<strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong>
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Am. J. Hum. Genet. 51: 1127-1135, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H.
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<strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong>
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J. Clin. Invest. 86: 1729-1737, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" 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/10.1172/JCI114898" target="_blank">Full Text</a>]
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Dinauer, M. C., Pierce, E. A., Erickson, R. W., Muhlebach, T. J., Messner, H., Orkin, S. H., Seger, R. A., Curnutte, J. T.
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<strong>Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.</strong>
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Proc. Nat. Acad. Sci. 88: 11231-11235, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1763037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1763037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1763037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.88.24.11231" target="_blank">Full Text</a>]
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<a id="Fukui1995" class="mim-anchor"></a>
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Fukui, T., Lassegue, B., Kai, H., Alexander, R. W., Griendling, K. K.
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<strong>Cytochrome b-558 alpha-subunit cloning and expression in rat aortic smooth muscle cells.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7578211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7578211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7578211" 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/10.1016/0005-2728(95)00098-4" target="_blank">Full Text</a>]
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Inoue, N., Kawashima, S., Kanazawa, K., Yamada, S., Akita, H., Yokoyama, M.
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<strong>Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease.</strong>
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Circulation 97: 135-137, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9445163" 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/10.1161/01.cir.97.2.135" target="_blank">Full Text</a>]
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Li, A., Prasad, A., Mincemoyer, R., Satorius, C., Epstein, N., Finkel, T., Quyyumi, A. A.
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<strong>Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function.</strong>
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Am. J. Med. Genet. 86: 57-61, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440830" 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/10.1002/(sici)1096-8628(19990903)86:1<57::aid-ajmg11>3.0.co;2-r" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Nakano2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B.
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<strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong>
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J. Clin. Invest. 118: 1176-1185, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18292807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18292807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18292807[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18292807" 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/10.1172/JCI33835" target="_blank">Full Text</a>]
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<a id="Parkos1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Parkos, C. A., Allen, R. A., Cochrane, C. G., Jesaitis, A. J.
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<strong>Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000.</strong>
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J. Clin. Invest. 80: 732-742, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3305576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3305576</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3305576" 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/10.1172/JCI113128" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Parkos1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J., Orkin, S. H.
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<strong>Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.</strong>
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Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3368442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.85.10.3319" target="_blank">Full Text</a>]
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<a id="Powell2002" class="mim-anchor"></a>
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Powell, J. A., Gardner, A. E., Bais, A. J., Hinze, S. J., Baker, E., Whitmore, S., Crawford, J., Kochetkova, M., Spendlove, H. E., Doggett, N. A., Sutherland, G. R., Callen, D. F., Kremmidiotis, G.
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<strong>Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.</strong>
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Genomics 80: 303-310, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12213200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12213200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12213200" 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/10.1006/geno.2002.6828" target="_blank">Full Text</a>]
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<a id="Schapiro1991" class="mim-anchor"></a>
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Schapiro, B. L., Newburger, P. E., Klempner, M. S., Dinauer, M. C.
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<strong>Chronic granulomatous disease presenting in a 69-year-old man.</strong>
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New Eng. J. Med. 325: 1786-1790, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1719419" 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/10.1056/NEJM199112193252506" target="_blank">Full Text</a>]
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Stasia, M. J., Bordigoni, P., Martel, C., Morel, F.
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<strong>A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4.</strong>
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Hum. Genet. 110: 444-450, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12073015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12073015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12073015" 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/s00439-002-0720-8" target="_blank">Full Text</a>]
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Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh, N.
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<strong>Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.</strong>
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Brit. J. Haemat. 141: 848-851, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18422995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18422995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18422995" 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/10.1111/j.1365-2141.2008.07148.x" target="_blank">Full Text</a>]
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<a id="Thomas2017" class="mim-anchor"></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://www.ncbi.nlm.nih.gov/pmc/?term=28351984[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" 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/10.1084/jem.20161382" target="_blank">Full Text</a>]
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<a id="Ushio-Fukai1996" class="mim-anchor"></a>
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Ushio-Fukai, M., Zafari, A. M., Fukui, T., Ishizaka, N., Griendling, K.
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<strong>p22-phox is a critical component of the superoxide-generating NADH/NADPH oxidase system and regulates angiotensin II-induced hypertrophy in vascular smooth muscle cells.</strong>
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J. Biol. Chem. 271: 23317-23321, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798532" 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/10.1074/jbc.271.38.23317" target="_blank">Full Text</a>]
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<a id="Yamada2000" class="mim-anchor"></a>
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Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y.
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<strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong>
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Brit. J. Haemat. 108: 511-517, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank">Full Text</a>]
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<a id="Yazdanpanah2009" class="mim-anchor"></a>
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Yazdanpanah, B., Wiegmann, K., Tchikov, V., Krut, O., Pongratz, C., Schramm, M., Kleinridders, A., Wunderlich, T., Kashkar, H., Utermohlen, O., Bruning, J. C., Schutze, S., Kronke, M.
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<strong>Riboflavin kinase couples TNF receptor 1 to NADPH oxidase.</strong>
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Nature 460: 1159-1163, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19641494" 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/nature08206" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 02/19/2019
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Marla J. F. O'Neill - updated : 12/3/2009<br>Ada Hamosh - updated : 9/9/2009<br>Cassandra L. Kniffin - updated : 5/30/2008<br>Patricia A. Hartz - updated : 12/16/2004
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Cassandra L. Kniffin : 3/3/2004
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carol : 05/07/2024
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carol : 07/06/2020<br>ckniffin : 07/02/2020<br>carol : 01/09/2020<br>mgross : 02/19/2019<br>alopez : 05/31/2018<br>carol : 01/05/2016<br>alopez : 5/21/2015<br>mcolton : 5/19/2015<br>carol : 12/23/2009<br>wwang : 12/4/2009<br>terry : 12/3/2009<br>alopez : 9/14/2009<br>terry : 9/9/2009<br>alopez : 2/9/2009<br>wwang : 1/23/2009<br>ckniffin : 1/15/2009<br>wwang : 6/17/2008<br>ckniffin : 5/30/2008<br>mgross : 12/16/2004<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/11/2004
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<strong>*</strong> 608508
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CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA
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CYTOCHROME b(558), ALPHA SUBUNIT<br />
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p22-PHOX<br />
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CYTOCHROME b LIGHT CHAIN
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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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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: CYBA</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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<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: 16q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:88,643,289-88,651,053 </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">
|
|
<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>
|
|
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>
|
|
Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
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|
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<tr>
|
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<td rowspan="1">
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<span class="mim-font">
|
|
16q24.2
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</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
Chronic granulomatous disease 4, autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
233690
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
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|
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</tr>
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|
|
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|
|
</tbody>
|
|
</table>
|
|
</div>
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</div>
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<div>
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<br />
|
|
</div>
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<div>
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|
<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>The CYBA gene encodes the alpha subunit, also known as the light chain, of cytochrome b(-245), which is a component of the NADPH oxidase (NOX) complex responsible for the respiratory burst in phagocytes.</p><p>The CYBB gene (300481) is an X-linked gene which encodes the cytochrome b beta subunit, also known as the heavy chain.</p><p>Dinauer et al. (1990) and Schapiro et al. (1991) referred to the 22-kD gene product as p22-phox (for phagocyte oxidase). De Boer et al. (1992) referred to the product of the CYBA gene as the alpha subunit of cytochrome b(558) or p22-phox. They mentioned an international agreement on designations. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>By screening a cDNA library constructed from human promyelocytic leukemia cells, Parkos et al. (1988) isolated a cDNA corresponding to the light chain of cytochrome b. The cDNA encodes a 195-amino acid protein with a high proline content (10%) and a molecular mass of 22 kD. A database search showed that a 31-residue region of the protein is 39% identical to a corresponding region of the heme-bearing subunit (polypeptide I) of mitochondrial cytochrome c oxidase (MTCO1; 516030). Northern blot analysis detected a 0.8-kb mRNA transcript in all cell lines tested, including phagocytes, hepatic cells, endothelial cells, B cells, and erythroleukemic cells, but the 22-kD protein was barely detectable in the nonphagocytic cells, suggesting a block in translation in these cells. The stable protein was detected only in phagocytic cells that were also expressing the larger cytochrome b subunit, p91-phox. Parkos et al. (1988) concluded that the large subunit may play a role in regulating the assembly of the heterodimeric cytochrome b. </p><p>Fukui et al. (1995) isolated a cDNA for the cytochrome b alpha subunit (p22-phox) of the NADPH oxidase in rat vascular smooth muscle cells (VSMCs) and showed that the rat gene is homologous to both the human and mouse genes. </p>
|
|
</span>
|
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<div>
|
|
<br />
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Dinauer et al. (1990) determined that the CYBA gene contains 6 exons and spans 8.5 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using Southern blot analysis of DNA from human-rodent somatic cell hybrids, Bu-Ghanim et al. (1990) demonstrated that the alpha subunit is encoded by a single locus (CYBA) on chromosome 16. By a combination of Southern blot analysis of somatic cell hybrids and in situ hybridization, Dinauer et al. (1990) mapped the CYBA gene to 16q24. </p><p>By genomic sequence analysis, Powell et al. (2002) mapped the CYBA gene to chromosome 16q24.3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ushio-Fukai et al. (1996) provided evidence that p22-phox is a critical component of the superoxide-generating vascular NADH/NADPH oxidase. They stably transfected antisense p22-phox cDNA into rat VSMCs and showed that this results in decreased cytochrome-b content and superoxide production. </p><p>Superoxide anion (O2-) formation occurs in phagocytic cells, such as neutrophils, macrophages, and monocytes, and is important for the microbicidal activity of these cells. The production of superoxide anion is not limited to these cell types, however, and has been implicated in the pathogenesis of both hypertension and atherosclerosis (Alexander, 1995). </p><p>Yazdanpanah et al. (2009) identified riboflavin kinase (RFK, formerly known as flavokinase; 613010) as a TNFR1 (191190)-binding protein that physically and functionally couples TNFR1 to NADPH oxidase (300225). In mouse and human cells, RFK binds to both the TNFR1 death domain and to p22(phox), the common subunit of NADPH oxidase isoforms. RFK-mediated bridging of TNFR1 and p22(phox) is a prerequisite for TNF-induced but not for Toll-like receptor (see 601194)-induced reactive oxygen species (ROS) production. Exogenous flavin mononucleotide or FAD was able to substitute fully for TNF stimulation of NADPH oxidase in RFK-deficient cells. RFK is rate-limiting in the synthesis of FAD, an essential prosthetic group of NADPH oxidase. Yazdanpanah et al. (2009) concluded that TNF, through the activation of RFK, enhances the incorporation of FAD in NADPH oxidase enzymes, a critical step for the assembly and activation of NADPH oxidase. </p><p>By microscopic analyses of transfected mouse macrophages and HEK293T cells, Thomas et al. (2017) demonstrated that Eros (CYBC1; 618334) colocalized in the endoplasmic reticulum (ER) with gp91phox and p22phox. Coimmunoprecipitation analysis showed that Eros interacted directly with gp91phox. Based on studies of neutrophils and macrophages from Eros -/- mice, 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>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Chronic Granulomatous Disease, Autosomal Recessive, 4</em></strong></p><p>
|
|
In 3 patients with autosomal recessive cytochrome b-negative chronic granulomatous disease (CGD4; 233690), Dinauer et al. (1990) identified 4 mutations in the CYBA gene (608508.0001-608508.0004). </p><p>Yamada et al. (2000) performed mutation analysis on 3 female patients with cytochrome b-negative CGD4 and found 2 novel mutations in the CYBA gene. One patient with a severe phenotype had a homozygous nonsense mutation in exon 1 (608508.0009); the other 2 patients with mild phenotypes shared the same homozygous missense mutation in exon 2 (608508.0010). The latter 2 patients, but not the first, were demonstrated to have detectable p22-phox expression and significant granulocyte respiratory burst activity, consistent with the milder phenotype. </p><p>Teimourian et al. (2008) identified homozygous mutations or deletions in the CYBA gene (see, e.g., 608508.0012) in 8 patients from 7 unrelated consanguineous Iranian families with cytochrome b-negative CGD4. Patients had a clinical history of recurrent severe infections, including pneumonia, lymphadenitis, liver abscesses, and pyodermatitis. Four of the patients presented before 1 year of age. </p><p><strong><em>Polymorphisms</em></strong></p><p>
|
|
Parkos et al. (1988) described a 242C-T polymorphism of the CYBA gene causing a his72-to-tyr change (rs4673; 608508.0008). Bedard et al. (2009) noted that the 242C-T SNP is also referred to as 214T-C (Y72H) based on numbering from the ATG codon. </p><p>Inoue et al. (1998) reported that the presence of the 242T polymorphism was associated with reduced risk of coronary artery disease (CAD) in Japanese. This was significant since patients with CAD have impaired endothelial function in part due to an increase in vascular oxidant stress. </p><p>Li et al. (1999) studied the frequency of the 242T polymorphism in 252 U.S. patients (83% Caucasian) who underwent angiography for the diagnosis of CAD. The prevalence of the 242T allele was not different in 149 patients with CAD compared to 103 patients with angiographically normal coronary arteries. There were also no significant differences in coronary epicardial or microvascular responses to acetylcholine or sodium nitroprusside between the groups of patients with or without the 242T allele. In the overall study population of 252 patients, the CC genotype was found in 39%, TC in 45%, and TT in 16%, giving a T allele frequency of 0.34 in patients with normal coronary arteries and 0.42 in CAD patients, with a trend in the direction opposite to that observed in the Japanese population by Inoue et al. (1998). The frequency of the T allele was nearly 4 times higher in the U.S. population than in the Japanese population. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Nakano et al. (2008) found that induced-mutant nmf333 mice were deficient in p22-phox protein due to a tyr121-to-his (Y121H) mutation in the Cyba gene. Homozygous mutant mice showed chronic granulomatous disease characterized by absence of superoxide production in phagocytes and complete absence of NADPH oxidase activity. The mutant mice were highly susceptible to fatal necrotizing B. cepacia pneumonia. In addition, mutant mice showed a severe balance disorder associated with complete absence of otoconia in the utricles and saccules of the inner ear. Transgenic expression of wildtype Cyba rescued both phenotypes. Studies on wildtype mice found Cyba expression in the endolymphatic ducts of the embryonic inner ear, which decreased by postnatal day 12. Based on these findings, Nakano et al. (2008) proposed that NOX activity in the endolymph of the embryonic inner ear regulates local ionic conditions and pH, which may favor the crystallization of calcium carbonate and thereby promote the formation of otoconia. However, the authors noted that balance disorders had not been described in humans with CYBA-associated disease. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBA, 10-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000002344
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autosomal recessive cytochrome b-negative CGD-4 (CGD4; 233690), whose parents were first cousins, Dinauer et al. (1990) found homozygosity for a large deletion, approximately 10 kb, in the CYBA gene that removed all but the extreme 5-prime coding sequence of the CYBA gene. The patient had originally been reported by Baehner and Nathan (1968). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBA, 1-BP DEL, 272C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1439134665,
|
|
|
|
|
|
|
|
ClinVar: RCV000757945, RCV001816812, RCV004757277
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autosomal recessive cytochrome b-negative CGD (CGD4; 233690), Dinauer et al. (1990) identified compound heterozygous mutations in the CYBA gene: a 1-bp deletion (c.272delC), resulting in a frameshift and premature termination, and a c.297G-A transition, resulting in an arg90-to-gln (R90Q) substitution (608508.0003). The patient had previously been reported by Curnutte et al. (1987). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBA, ARG90GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894513,
|
|
|
|
|
|
gnomAD: rs104894513,
|
|
|
|
|
|
ClinVar: RCV000002346
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg90-to-gln (R90Q) mutation in the CYBA gene that was found in compound heterozygous state in a patient with autosomal recessive cytochrome b-negative CGD (CGD4; 233690) by Dinauer et al. (1990), see 608508.0002. </p><p>De Boer et al. (1992) reported 3 patients with cytochrome b-negative CGD from 1 family with first-cousin parents who were homozygous for the R90Q mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBA, SER118ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894514,
|
|
|
|
|
|
gnomAD: rs104894514,
|
|
|
|
|
|
ClinVar: RCV000002347, RCV000059045, RCV001731273
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autosomal recessive cytochrome b-negative CGD (CGD4; 233690), whose parents were second cousins, Dinauer et al. (1990) found homozygosity for a 382C-A transversion, resulting in a ser118-to-arg (S118R) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBA, PRO156GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894515,
|
|
|
|
|
|
gnomAD: rs104894515,
|
|
|
|
|
|
ClinVar: RCV000002348, RCV000208600
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-year-old Caucasian female with autosomal recessive cytochrome b-negative CGD (CGD4; 233690) who was the offspring of consanguineous parents, Dinauer et al. (1991) identified a homozygous C-to-A transversion in the CYBA gene that predicted a nonconservative pro156-to-gln (P156Q). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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<div>
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<span class="mim-text-font">
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CYBA, HIS94ARG
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<br />
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SNP: rs104894510,
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ClinVar: RCV000002349, RCV004799727
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with autosomal recessive cytochrome b-negative CGD (CGD4; 233690), offspring of first-cousin parents, de Boer et al. (1992) found homozygosity for a 309A-G transition in the CYBA gene, resulting in a nonconservative amino acid replacement, his94-to-arg (H94R). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0007 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CYBA, IVS4DS, G-A, +1
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<br />
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SNP: rs1567609091,
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ClinVar: RCV000002350
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with cytochrome b-negative CGD (CGD4; 233690), who was born of first-cousin parents, de Boer et al. (1992) found homozygosity for the absence of exon 4 in the CYBA gene. In this patient, a G-to-A transition was found at position 1 of intron 4; hence, deletion of exon 4 was a result of a splicing error. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 CYBA POLYMORPHISM</strong>
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</span>
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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CYBA, HIS72TYR, 242C-T
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<br />
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SNP: rs4673,
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gnomAD: rs4673,
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ClinVar: RCV000002351, RCV000249071, RCV000736011, RCV000989646, RCV001723534, RCV001826406
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Parkos et al. (1988) identified a 242C-T polymorphism (rs4673) in exon 4 of the CYBA gene, leading to a his72-to-tyr (H72Y) substitution. Data on its frequency in Japanese (Inoue et al., 1998) and U.S. (Li et al., 1999) populations have been reported. Bedard et al. (2009) noted that the 242C-T SNP is also referred to as 214T-C (Y72H) based on numbering from the ATG codon. </p><p><strong><em>Reactive Oxygen Species Generation</em></strong></p><p>
|
|
Bedard et al. (2009) analyzed 7 CYBA polymorphisms and NOX2-dependent reactive oxygen species (ROS) generation in 50 unrelated healthy Caucasian individuals. The authors identified 11 haplotypes, which could be grouped into 7 haplogroups. Only 1 haplogroup, designated 'C' and containing the 214T-C, 521T-C (rs1049254, 549C-T, V174A), and the 3-prime UTR 24G-A (rs1049255, 640A-G) SNPs, had a significant effect on ROS production, showing markedly reduced ROS generation compared to other haplotypes. Although functional analysis demonstrated significantly reduced reporter gene activity with the A allele of the 3-prime UTR SNP 24G-A compared to the G allele (p = 0.0055), haplotype analysis indicated that the observed effect on ROS production was due to the strong contribution of haplotype C. Bedard et al. (2009) suggested that inconsistencies found in published reports might be due to the analysis of individual SNPs rather than haplotypes. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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CYBA, GLN3TER
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<br />
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|
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SNP: rs104894511,
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gnomAD: rs104894511,
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|
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ClinVar: RCV000002352, RCV001826407
|
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 33-year-old Japanese woman with cytochrome b-negative CGD (CGD4; 233690), Yamada et al. (2000) demonstrated homozygosity for a nonsense mutation in exon 1 of the CYBA gene. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
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CYBA, GLY24ARG
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<br />
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SNP: rs28941476,
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|
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gnomAD: rs28941476,
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|
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ClinVar: RCV000002353, RCV001093039, RCV001274006
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 presumably unrelated Japanese patients with mild cytochrome b-negative CGD (CGD4; 233690), Yamada et al. (2000) identified homozygosity for a 98G-A transition in exon 2 of the CYBA gene, resulting in a gly24-to-arg (G24R) substitution. Since the mutation was identified in 2 such patients and since the parents in neither case were related, Yamada et al. (2000) suggested that this may be a relatively common mutation in the Japanese population. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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CYBA, 36-BP DEL
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<br />
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SNP: rs1907271302,
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|
|
ClinVar: RCV000002354
|
|
|
|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Stasia et al. (2002) used RT-PCR amplification and sequencing to demonstrate a mutation in the p22-PHOX mRNA in a patient with autosomal recessive cytochrome b-negative CGD (CGD4; 233690). The defect was a 179-bp insertion associated with a 21-bp deletion of the beginning of exon 5 at position 315 from the translation start codon of the cDNA. This defect was also detected in the patient's parents. In the genomic DNA of the patient, the molecular defect was a homozygous 36-bp deletion in the linking sequence between intron 4 and exon 5. This genomic deletion corresponded to 15 bp of the 3-prime extremity of intron 4 and 21 bp of the beginning of exon 5 (the same deletion of exon 5 seen in the corresponding mRNA). The splicing mRNA error was attributable to the loss of the AG acceptor site of intron 4 and the utilization of a cryptic splice site with an AG sequence at position 355-356 of intron 4. </p>
|
|
</span>
|
|
</div>
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBA, ALA125THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119103269,
|
|
|
|
|
|
gnomAD: rs119103269,
|
|
|
|
|
|
ClinVar: RCV000002355
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mild autosomal recessive cytochrome b-negative CGD (CGD4; 233690), Teimourian et al. (2008) identified a homozygous 373G-A transition in exon 6 of the CYBA gene, resulting in an ala125-to-thr (A125T) substitution. The patient presented late at age 18 with pneumonia and liver abscesses, even though there was no detectable p22 protein and no reactive oxygen species production. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
|
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|
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|
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Parkos et al. (1987)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Alexander, R. W.
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<strong>Hypertension and the pathogenesis of atherosclerosis. Oxidative stress and the mediation of arterial inflammatory response: a new perspective.</strong>
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Hypertension 25: 155-161, 1995.
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[PubMed: 7843763]
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[Full Text: https://doi.org/10.1161/01.hyp.25.2.155]
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</li>
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<li>
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<p class="mim-text-font">
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Baehner, R. L., Nathan, D. G.
|
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<strong>Quantitative nitroblue tetrazolium test in chronic granulomatous disease.</strong>
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New Eng. J. Med. 278: 971-976, 1968.
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[PubMed: 4384563]
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</li>
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<li>
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<p class="mim-text-font">
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Bedard, K., Attar, H., Bonnefont, J., Jaquet, V., Borel, C., Plastre, O., Stasia, M.-J., Antonarakis, S. E., Krause, K.-H.
|
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<strong>Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.</strong>
|
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Hum. Mutat. 30: 1123-1133, 2009.
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[PubMed: 19388116]
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[Full Text: https://doi.org/10.1002/humu.21029]
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<p class="mim-text-font">
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Bu-Ghanim, H. N., Casimir, C. M., Povey, S., Segal, A. W.
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<strong>The alpha subunit of cytochrome b(-245) mapped to chromosome 16.</strong>
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Genomics 8: 568-570, 1990.
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[PubMed: 2286377]
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[Full Text: https://doi.org/10.1016/0888-7543(90)90045-v]
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</li>
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<p class="mim-text-font">
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Curnutte, J. T., Kuver, R., Scott, P. J.
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<strong>Activation of neutrophil NADPH oxidase in a cell-free system: partial purification of components and characterization of the activation process.</strong>
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J. Biol. Chem. 262: 5563-5569, 1987.
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[PubMed: 3571224]
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</li>
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<li>
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<p class="mim-text-font">
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de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D.
|
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<strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong>
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Am. J. Hum. Genet. 51: 1127-1135, 1992.
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[PubMed: 1415254]
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</li>
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<li>
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<p class="mim-text-font">
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Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H.
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<strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong>
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J. Clin. Invest. 86: 1729-1737, 1990.
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[PubMed: 2243141]
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[Full Text: https://doi.org/10.1172/JCI114898]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dinauer, M. C., Pierce, E. A., Erickson, R. W., Muhlebach, T. J., Messner, H., Orkin, S. H., Seger, R. A., Curnutte, J. T.
|
|
<strong>Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 11231-11235, 1991.
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[PubMed: 1763037]
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[Full Text: https://doi.org/10.1073/pnas.88.24.11231]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
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Fukui, T., Lassegue, B., Kai, H., Alexander, R. W., Griendling, K. K.
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<strong>Cytochrome b-558 alpha-subunit cloning and expression in rat aortic smooth muscle cells.</strong>
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Biochim. Biophys. Acta 1231: 215-219, 1995.
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[PubMed: 7578211]
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[Full Text: https://doi.org/10.1016/0005-2728(95)00098-4]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
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Inoue, N., Kawashima, S., Kanazawa, K., Yamada, S., Akita, H., Yokoyama, M.
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<strong>Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease.</strong>
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Circulation 97: 135-137, 1998.
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[PubMed: 9445163]
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[Full Text: https://doi.org/10.1161/01.cir.97.2.135]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Li, A., Prasad, A., Mincemoyer, R., Satorius, C., Epstein, N., Finkel, T., Quyyumi, A. A.
|
|
<strong>Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function.</strong>
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Am. J. Med. Genet. 86: 57-61, 1999.
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[PubMed: 10440830]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<57::aid-ajmg11>3.0.co;2-r]
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|
|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B.
|
|
<strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong>
|
|
J. Clin. Invest. 118: 1176-1185, 2008.
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[PubMed: 18292807]
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|
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|
|
|
[Full Text: https://doi.org/10.1172/JCI33835]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parkos, C. A., Allen, R. A., Cochrane, C. G., Jesaitis, A. J.
|
|
<strong>Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000.</strong>
|
|
J. Clin. Invest. 80: 732-742, 1987.
|
|
|
|
|
|
[PubMed: 3305576]
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|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113128]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J., Orkin, S. H.
|
|
<strong>Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 3319-3323, 1988.
|
|
|
|
|
|
[PubMed: 3368442]
|
|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.85.10.3319]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
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