2936 lines
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Entry
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- *607040 - ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
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- OMIM
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<p>
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<span class="h4">*607040</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607040">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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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</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=ENSG00000121270;t=ENST00000356608" 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=85320" 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=607040" 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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<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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<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=ENSG00000121270;t=ENST00000356608" 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_001370496,NM_001370497,NM_032583,NM_033151,NM_145186,XM_011523398,XM_017023797,XM_017023798,XM_017023799,XM_017023800,XM_017023801,XM_017023802,XM_024450475,XM_047434818,XR_007064925" 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_001370497" 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=607040" 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=06127&isoform_id=06127_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/ABCC11" 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/13346481,14280091,15027829,15149474,19851882,21729873,21729876,74762666,119603121,119603122,119603123,119603124,119603125,119603126,119603127,119603128,194376966,767990724,1034596358,1034596360,1034596362,1034596364,1034596367,1034596369,1370469381,1635577148,1635577212,2217307949,2462551361,2462551363,2462551365,2462551367,2462551369,2462551372,2462551374,2462551376,2462551378,2462551380,2462551382,2462551384" 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/Q96J66" 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=85320" 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=ENSG00000121270;t=ENST00000356608" 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=ABCC11" 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=ABCC11" 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+85320" 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/ABCC11" 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:85320" 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/85320" 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=ENST00000563906.1&hgg_start=48164819&hgg_end=48247539&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607040[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=607040[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/ENSG00000121270" 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=ABCC11" 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=ABCC11" 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=ABCC11" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ABCC11&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/PA24393" 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:14639" 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="http://v1.marrvel.org/search/gene/ABCC11#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="https://www.ncbi.nlm.nih.gov/gene/85320/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=85320" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003411;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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</div>
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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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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>
|
|
<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:85320" 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=ABCC11&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>
|
|
<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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|
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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">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
607040
|
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</span>
|
|
</span>
|
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</div>
|
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</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
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|
|
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
|
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
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|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ABCC11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ABCC11</a></em></strong>
|
|
</span>
|
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</p>
|
|
</div>
|
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|
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/16/416?start=-3&limit=10&highlight=416">16q12.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:48164819-48247539&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'})">16:48,164,819-48,247,539</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/416?start=-3&limit=10&highlight=416">
|
|
16q12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
[Axillary odor, variation in]
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/117800"> 117800 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
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</td>
|
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|
|
|
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</tr>
|
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|
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|
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|
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
[Colostrum secretion, variation in]
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/117800"> 117800 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
[Earwax, wet/dry]
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/117800"> 117800 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
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|
|
<div>
|
|
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|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607040" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607040" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<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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<p><a href="#6" class="mim-tip-reference" title="Tammur, J., Prades, C., Arnould, I., Rzhetsky, A., Hutchinson, A., Adachi, M., Schuetz, J. D., Swoboda, K. J., Ptacek, L. J., Rosier, M., Dean, M., Allikmets, R. <strong>Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.</strong> Gene 273: 89-96, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11483364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11483364</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00572-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11483364">Tammur et al. (2001)</a> identified ABCC11 and ABCC12 (<a href="/entry/607041">607041</a>) by database analysis using ABC transporter sequences as queries. The deduced 1,382-amino acid ABCC11 protein contains 2 ATP-binding domains and 2 transmembrane regions. It shares 40%, 33%, 32%, and 32% amino acid sequence identity with ABCC5 (<a href="/entry/605251">605251</a>), ABCC4 (<a href="/entry/605250">605250</a>), ABCC2 (<a href="/entry/601107">601107</a>), and ABCC3 (<a href="/entry/604323">604323</a>), respectively. PCR of a 16-tissue panel revealed expression in all tissues examined except kidney, spleen, and colon. The author determined that a second PCR product identified in lung was a splice variant lacking exon 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11483364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bera, T. K., Lee, S., Salvatore, G., Lee, B., Pastan, I. <strong>MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer.</strong> Molec. Med. 7: 509-516, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591886</a>]" pmid="11591886">Bera et al. (2001)</a> identified ABCC11, which they called MRP8, as a gene expressed in breast cancer tissues, and they cloned a full-length cDNA from a normal breast cDNA library. The deduced 1,382-amino acid protein has a calculated molecular mass of about 150 kD and contains 2 conserved nucleotide-binding domains and 12 putative transmembrane domains. Dot blot analysis and PCR with multiple tissues showed strong expression in testis and breast, with weaker expression in liver, prostate, placenta, and adult and fetal brain. Northern blot analysis revealed a 4.5-kb transcript expressed in breast tissue and a 4.1-kb transcript expressed in testis and liver. Sequence analysis of the shorter transcript indicated that it encodes a deduced 1,064-amino acid protein. In vitro translation revealed a 150-kD protein synthesized by the longer transcript and a 120-kD protein synthesized by the shorter transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11591886" 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="#8" class="mim-tip-reference" title="Yabuuchi, H., Shimizu, H., Takayanagi, S., Ishikawa, T. <strong>Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.</strong> Biochem. Biophys. Res. Commun. 288: 933-939, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11688999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11688999</a>] [<a href="https://doi.org/10.1006/bbrc.2001.5865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11688999">Yabuuchi et al. (2001)</a> cloned ABCC11 from an adult liver cDNA library after identifying the putative ABC transporter by database analysis of a BAC clone. The deduced 1,383-amino acid protein shares about 47% identity with ABCC12. PCR analysis indicated wide expression in various adult and fetal tissues. They also identified a variant, which they designated variant A, in which exon 28 is entirely deleted. Variant A encodes a deduced 1,344-amino acid protein that contains 12 membrane-spanning domains, like ABCC11, but lacks 38 residues in the second ATP-binding cassette. Sequence analysis of several clones indicated that variant A is expressed at a frequency of about 25%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11688999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Tammur, J., Prades, C., Arnould, I., Rzhetsky, A., Hutchinson, A., Adachi, M., Schuetz, J. D., Swoboda, K. J., Ptacek, L. J., Rosier, M., Dean, M., Allikmets, R. <strong>Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.</strong> Gene 273: 89-96, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11483364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11483364</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00572-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11483364">Tammur et al. (2001)</a> determined that the ABCC11 gene contains 29 exons. They found that ABCC11 and ABCC12 were located tandemly, separated by about 200 kb, with the 5-prime ends facing the centromere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11483364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bera, T. K., Lee, S., Salvatore, G., Lee, B., Pastan, I. <strong>MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer.</strong> Molec. Med. 7: 509-516, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591886</a>]" pmid="11591886">Bera et al. (2001)</a> determined that the ABCC11 gene contains 31 exons and spans more than 80.4 kb. The breast-specific variant uses all 31 exons, while the variant expressed in testis uses 26 exons and begins at an alternate transcription start site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11591886" 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="#8" class="mim-tip-reference" title="Yabuuchi, H., Shimizu, H., Takayanagi, S., Ishikawa, T. <strong>Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.</strong> Biochem. Biophys. Res. Commun. 288: 933-939, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11688999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11688999</a>] [<a href="https://doi.org/10.1006/bbrc.2001.5865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11688999">Yabuuchi et al. (2001)</a> determined that the ABCC11 gene contains 30 exons spanning 68 kb and that the separation between the ABCC11 and ABCC12 genes is about 20 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11688999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Tammur, J., Prades, C., Arnould, I., Rzhetsky, A., Hutchinson, A., Adachi, M., Schuetz, J. D., Swoboda, K. J., Ptacek, L. J., Rosier, M., Dean, M., Allikmets, R. <strong>Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.</strong> Gene 273: 89-96, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11483364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11483364</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00572-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11483364">Tammur et al. (2001)</a> mapped the ABCC11 gene to chromosome 16q12.1 by radiation hybrid analysis. They noted that the ABCC11 and ABCC12 genes are contained within a BAC clone mapping to 16q12.1. <a href="#6" class="mim-tip-reference" title="Tammur, J., Prades, C., Arnould, I., Rzhetsky, A., Hutchinson, A., Adachi, M., Schuetz, J. D., Swoboda, K. J., Ptacek, L. J., Rosier, M., Dean, M., Allikmets, R. <strong>Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.</strong> Gene 273: 89-96, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11483364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11483364</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00572-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11483364">Tammur et al. (2001)</a> stated that the chromosomal localization, potential function, and expression profiles of the ABCC11 and ABCC12 genes make them promising candidates for paroxysmal kinesigenic choreoathetosis (PKC; <a href="/entry/128200">128200</a>) and infantile convulsions with paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11483364" 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>Wet or dry ear wax is a mendelian trait (see <a href="/entry/117800">117800</a>). <a href="#7" class="mim-tip-reference" title="Tomita, H., Yamada, K., Ghadami, M., Ogura, T., Yanai, Y., Nakatomi, K., Sadamatsu, M., Masui, A., Kato, N., Niikawa, N. <strong>Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.</strong> Lancet 359: 2000-2002, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12076558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12076558</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)08835-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12076558">Tomita et al. (2002)</a> mapped a wet/dry ear wax locus to the pericentromeric region of chromosome 16. <a href="#9" class="mim-tip-reference" title="Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others. <strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong> Nature Genet. 38: 324-330, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>] [<a href="https://doi.org/10.1038/ng1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444273">Yoshiura et al. (2006)</a> undertook further mapping of the ear wax locus by performing a genotyping and case-control study of 64 Japanese individuals with dry ear wax and 54 with the wet type using 134 CA repeat markers. This led to the identification of a nonsynonymous SNP (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17822931</a>) in exon 4 of the ABCC11 gene (538G-A, G180R; <a href="#0001">607040.0001</a>), which showed close association with the ear wax type. In a new series of 126 Japanese individuals, 87 of 88 individuals with dry ear wax were AA homozygotes, and all 38 individuals with the wet type were either GA heterozygotes or GG homozygotes, consistent with the previous conclusions that the wet cerumen phenotype is completely dominant to the dry type. By a functional assay, <a href="#9" class="mim-tip-reference" title="Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others. <strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong> Nature Genet. 38: 324-330, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>] [<a href="https://doi.org/10.1038/ng1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444273">Yoshiura et al. (2006)</a> demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. A 27-bp deletion in ABCC11 exon 29 (<a href="#0002">607040.0002</a>) was also found in a few individuals with Asian ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16444273+12076558" 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 genotyping 225 Japanese women for the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17822931</a> SNP in the ABCC11 gene, <a href="#4" class="mim-tip-reference" title="Miura, K., Yoshiura, K., Miura, S., Shimada, T., Yamasaki, K., Yoshida, A., Nakayama, D., Shibata, Y., Niikawa, N., Masuzaki, H. <strong>A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.</strong> Hum. Genet. 121: 631-633, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394018</a>] [<a href="https://doi.org/10.1007/s00439-007-0356-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17394018">Miura et al. (2007)</a> reported an association between ear wax type and apocrine colostrum secretion (see <a href="/entry/117800">117800</a>) from the mammary gland on the first postpartum day. The absence of colostrum secretion was more common among women with dry ear wax (105 of 155, 67.7%) compared to women with wet ear wax (28 of 70, 40%). The authors noted that both colostrum and cerumen have a common origin in the secretory glands and suggested that the ABCC11 gene product may play a role in colostrum secretion independent of endocrine control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394018" 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>Dry ear wax has been associated with reduced axillary odor (<a href="#3" class="mim-tip-reference" title="Matsunaga, E. <strong>The dimorphism in human normal cerumen.</strong> Ann. Hum. Genet. 25: 273-286, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14471313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14471313</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1962.tb01766.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14471313">Matsunaga, 1962</a>). In 18 Asian and 7 Caucasian individuals, <a href="#2" class="mim-tip-reference" title="Martin, A., Saathoff, M., Kuhn, F., Max, H., Terstegen, L., Natsch, A. <strong>A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.</strong> J. Invest. Derm. 130: 529-540, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710689</a>] [<a href="https://doi.org/10.1038/jid.2009.254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710689">Martin et al. (2010)</a> determined the ABCC11 538G-A genotype and demonstrated that in AA homozygotes, the secretion of amino-acid conjugates of human-specific odorants was abolished and the secretion of steroidal odorants and their putative precursors were significantly reduced. <a href="#2" class="mim-tip-reference" title="Martin, A., Saathoff, M., Kuhn, F., Max, H., Terstegen, L., Natsch, A. <strong>A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.</strong> J. Invest. Derm. 130: 529-540, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710689</a>] [<a href="https://doi.org/10.1038/jid.2009.254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710689">Martin et al. (2010)</a> concluded that ABCC11 plays a key role in the secretion of odorants and their precursors from apocrine sweat glands. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19710689+14471313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the study of <a href="#9" class="mim-tip-reference" title="Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others. <strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong> Nature Genet. 38: 324-330, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>] [<a href="https://doi.org/10.1038/ng1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444273">Yoshiura et al. (2006)</a>, frequency of the A allele of the 538G-A polymorphism showed a north-south and east-west downward geographic gradient; worldwide, it was highest in Chinese and Koreans, and a common dry-type haplotype was retained among various ethnic populations. These results suggested that the allele A arose in northeast Asia and thereafter spread through the world. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16444273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The aboriginal Ainu population of the Japanese island of Hokkaido has an exceptionally high frequency of the dominant wet ear wax phenotype compared to those of neighboring Asian populations (see <a href="#9" class="mim-tip-reference" title="Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others. <strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong> Nature Genet. 38: 324-330, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>] [<a href="https://doi.org/10.1038/ng1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444273">Yoshiura et al., 2006</a>). <a href="#5" class="mim-tip-reference" title="Sato, T., Amano, T., Ono, H., Ishida, H., Kodera, H., Matsumura, H., Yoneda, M., Masuda, R. <strong>Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan.</strong> J. Hum. Genet. 54: 409-413, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19557017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19557017</a>] [<a href="https://doi.org/10.1038/jhg.2009.56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19557017">Sato et al. (2009)</a> genotyped specimens from various Okhotsk and Jomon/Epi-Jomon archaeologic sites on Hokkaido for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17822931</a>. Analysis of 31 specimens of the Okhotsk people and 19 specimens of the Jomon/Epi-Jomon people showed that the frequency of the wet-type allele was higher among the Jomon/Epi-Jomon compared to other northeastern Asian populations, including even modern Ainu. In contrast, the Okhotsk had relatively higher frequencies of the dry-type allele compared to Ainu and Jomon/Epi-Jomon. The findings suggested that gene flow occurred from northeastern Asia to descendants of the Jomon/Epi-Jomon through the Okhotsk, resulting in the establishment of the Ainu. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16444273+19557017" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>.0001 APOCRINE GLAND SECRETION, VARIATION IN</strong>
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EAR WAX, WET/DRY, INCLUDED<br />
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ABCC11, GLY180ARG (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17822931</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs17822931 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;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/rs17822931?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=rs17822931" 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=rs17822931" 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=RCV000003737 OR RCV000003738 OR RCV000003739 OR RCV004714398" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003737, RCV000003738, RCV000003739, RCV004714398" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003737...</a>
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<p>The wet cerumen phenotype is completely dominant to the dry type (see <a href="/entry/117800">117800</a>). <a href="#9" class="mim-tip-reference" title="Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others. <strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong> Nature Genet. 38: 324-330, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>] [<a href="https://doi.org/10.1038/ng1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444273">Yoshiura et al. (2006)</a> demonstrated that the dry ear wax phenotype is recessive due to homozygous state of a 538G-A transition in exon 4 of the ABCC11 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17822931</a>), predicting a gly180-to-arg (G180R) amino acid substitution. The AA genotype corresponds to dry ear wax, and GA and GG to the wet type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16444273" 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 genotyping 225 Japanese women for the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17822931;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17822931</a> SNP in the ABCC11 gene, Miura et al. (2007) reported an association between ear wax type and apocrine colostrum secretion (see <a href="/entry/117800">117800</a>) from the mammary gland on the first postpartum day. The absence of colostrum secretion was more common among women with dry ear wax (105 of 155, 67.7%) compared to women with wet ear wax (28 of 70, 40%). The authors noted that both colostrum and cerumen have a common origin in the secretory glands and suggested that the ABCC11 gene product may play a role in colostrum secretion independent of endocrine control.</p><p><a href="#2" class="mim-tip-reference" title="Martin, A., Saathoff, M., Kuhn, F., Max, H., Terstegen, L., Natsch, A. <strong>A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.</strong> J. Invest. Derm. 130: 529-540, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710689</a>] [<a href="https://doi.org/10.1038/jid.2009.254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710689">Martin et al. (2010)</a> performed chemical analysis of axillary sweat samples from 25 individuals with different ABCC11 538G-A genotypes, including 18 Asian participants (11 AA homozygotes, 5 AG heterozygotes, and 2 GG homozygotes) and 7 Caucasian participants (2 AG heterozygotes and 5 GG homozygotes). Levels of 3 glutamine conjugates that are precursors for key body odorants were below detection limits in all participants with the AA genotype but were present in all AG and GG individuals, indicating that ABCC11 is essential for secretion of amino-acid conjugates of relevant axillary odors (see <a href="/entry/117800">117800</a>). RT-PCR analysis of armpit and face skin showed that ABCC11 was expressed only in the armpit specimens, suggesting that ABCC11 expression is specific to tissue containing apocrine sweat glands. Similarly, cDNA microarray analysis demonstrated 1.63-fold upregulation of ABCC11 expression in apocrine sweat glands versus 21.40-fold downregulation in eccrine sweat glands compared to a common reference. Immunohistochemistry revealed that the ABCC11 signal was concentrated in the same parts of apocrine glands in both AA and GG homozygotes, indicating that the nonfunctional ABCC11 protein is still translocated to its site of action. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 APOCRINE GLAND SECRETION, VARIATION IN</strong>
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ABCC11, 27-BP DEL
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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> rs387906296 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906296;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/rs387906296?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=rs387906296" 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=rs387906296" 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=RCV000003740" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003740" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003740</a>
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<p><a href="#9" class="mim-tip-reference" title="Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others. <strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong> Nature Genet. 38: 324-330, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>] [<a href="https://doi.org/10.1038/ng1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444273">Yoshiura et al. (2006)</a> found that a 27-bp deletion in ABCC11 exon 29 was associated with the dry type of cerumen (see <a href="/entry/117800">117800</a>) in a few individuals of Asian ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16444273" 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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Bera, T. K., Lee, S., Salvatore, G., Lee, B., Pastan, I.
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<strong>MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer.</strong>
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Molec. Med. 7: 509-516, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11591886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Martin, A., Saathoff, M., Kuhn, F., Max, H., Terstegen, L., Natsch, A.
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J. Invest. Derm. 130: 529-540, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710689" 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/jid.2009.254" target="_blank">Full Text</a>]
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<strong>The dimorphism in human normal cerumen.</strong>
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Ann. Hum. Genet. 25: 273-286, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14471313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14471313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14471313" 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.1469-1809.1962.tb01766.x" target="_blank">Full Text</a>]
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Miura, K., Yoshiura, K., Miura, S., Shimada, T., Yamasaki, K., Yoshida, A., Nakayama, D., Shibata, Y., Niikawa, N., Masuzaki, H.
|
|
<strong>A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.</strong>
|
|
Hum. Genet. 121: 631-633, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394018" 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/s00439-007-0356-9" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Sato2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sato, T., Amano, T., Ono, H., Ishida, H., Kodera, H., Matsumura, H., Yoneda, M., Masuda, R.
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<strong>Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan.</strong>
|
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J. Hum. Genet. 54: 409-413, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19557017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19557017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19557017" 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/jhg.2009.56" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Tammur2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tammur, J., Prades, C., Arnould, I., Rzhetsky, A., Hutchinson, A., Adachi, M., Schuetz, J. D., Swoboda, K. J., Ptacek, L. J., Rosier, M., Dean, M., Allikmets, R.
|
|
<strong>Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.</strong>
|
|
Gene 273: 89-96, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11483364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11483364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11483364" 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/s0378-1119(01)00572-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Tomita2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tomita, H., Yamada, K., Ghadami, M., Ogura, T., Yanai, Y., Nakatomi, K., Sadamatsu, M., Masui, A., Kato, N., Niikawa, N.
|
|
<strong>Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.</strong>
|
|
Lancet 359: 2000-2002, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12076558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12076558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12076558" 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/S0140-6736(02)08835-9" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Yabuuchi2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yabuuchi, H., Shimizu, H., Takayanagi, S., Ishikawa, T.
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<strong>Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.</strong>
|
|
Biochem. Biophys. Res. Commun. 288: 933-939, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11688999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11688999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11688999" 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/bbrc.2001.5865" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Yoshiura2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others.
|
|
<strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong>
|
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Nature Genet. 38: 324-330, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16444273" 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/ng1733" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/22/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/7/2010<br>Cassandra L. Kniffin - updated : 6/6/2007<br>Victor A. McKusick - updated : 2/24/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 6/17/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/18/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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wwang : 02/28/2011<br>wwang : 11/23/2010<br>terry : 11/22/2010<br>wwang : 1/22/2010<br>ckniffin : 1/7/2010<br>wwang : 6/14/2007<br>ckniffin : 6/6/2007<br>alopez : 3/1/2006<br>alopez : 3/1/2006<br>terry : 2/24/2006<br>mgross : 6/17/2002
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 607040
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
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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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<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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MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ABCC11</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: 16q12.1
|
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:48,164,819-48,247,539 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
|
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Location
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
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="3">
|
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<span class="mim-font">
|
|
16q12.1
|
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</span>
|
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</td>
|
|
|
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<td>
|
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<span class="mim-font">
|
|
[Axillary odor, variation in]
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
117800
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
[Colostrum secretion, variation in]
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
117800
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
[Earwax, wet/dry]
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
117800
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
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<br />
|
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</div>
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<div>
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|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Tammur et al. (2001) identified ABCC11 and ABCC12 (607041) by database analysis using ABC transporter sequences as queries. The deduced 1,382-amino acid ABCC11 protein contains 2 ATP-binding domains and 2 transmembrane regions. It shares 40%, 33%, 32%, and 32% amino acid sequence identity with ABCC5 (605251), ABCC4 (605250), ABCC2 (601107), and ABCC3 (604323), respectively. PCR of a 16-tissue panel revealed expression in all tissues examined except kidney, spleen, and colon. The author determined that a second PCR product identified in lung was a splice variant lacking exon 9. </p><p>Bera et al. (2001) identified ABCC11, which they called MRP8, as a gene expressed in breast cancer tissues, and they cloned a full-length cDNA from a normal breast cDNA library. The deduced 1,382-amino acid protein has a calculated molecular mass of about 150 kD and contains 2 conserved nucleotide-binding domains and 12 putative transmembrane domains. Dot blot analysis and PCR with multiple tissues showed strong expression in testis and breast, with weaker expression in liver, prostate, placenta, and adult and fetal brain. Northern blot analysis revealed a 4.5-kb transcript expressed in breast tissue and a 4.1-kb transcript expressed in testis and liver. Sequence analysis of the shorter transcript indicated that it encodes a deduced 1,064-amino acid protein. In vitro translation revealed a 150-kD protein synthesized by the longer transcript and a 120-kD protein synthesized by the shorter transcript. </p><p>Yabuuchi et al. (2001) cloned ABCC11 from an adult liver cDNA library after identifying the putative ABC transporter by database analysis of a BAC clone. The deduced 1,383-amino acid protein shares about 47% identity with ABCC12. PCR analysis indicated wide expression in various adult and fetal tissues. They also identified a variant, which they designated variant A, in which exon 28 is entirely deleted. Variant A encodes a deduced 1,344-amino acid protein that contains 12 membrane-spanning domains, like ABCC11, but lacks 38 residues in the second ATP-binding cassette. Sequence analysis of several clones indicated that variant A is expressed at a frequency of about 25%. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Tammur et al. (2001) determined that the ABCC11 gene contains 29 exons. They found that ABCC11 and ABCC12 were located tandemly, separated by about 200 kb, with the 5-prime ends facing the centromere. </p><p>Bera et al. (2001) determined that the ABCC11 gene contains 31 exons and spans more than 80.4 kb. The breast-specific variant uses all 31 exons, while the variant expressed in testis uses 26 exons and begins at an alternate transcription start site. </p><p>Yabuuchi et al. (2001) determined that the ABCC11 gene contains 30 exons spanning 68 kb and that the separation between the ABCC11 and ABCC12 genes is about 20 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
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<p>Tammur et al. (2001) mapped the ABCC11 gene to chromosome 16q12.1 by radiation hybrid analysis. They noted that the ABCC11 and ABCC12 genes are contained within a BAC clone mapping to 16q12.1. Tammur et al. (2001) stated that the chromosomal localization, potential function, and expression profiles of the ABCC11 and ABCC12 genes make them promising candidates for paroxysmal kinesigenic choreoathetosis (PKC; 128200) and infantile convulsions with paroxysmal choreoathetosis (ICCA; 602066). </p>
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<strong>Molecular Genetics</strong>
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<p>Wet or dry ear wax is a mendelian trait (see 117800). Tomita et al. (2002) mapped a wet/dry ear wax locus to the pericentromeric region of chromosome 16. Yoshiura et al. (2006) undertook further mapping of the ear wax locus by performing a genotyping and case-control study of 64 Japanese individuals with dry ear wax and 54 with the wet type using 134 CA repeat markers. This led to the identification of a nonsynonymous SNP (rs17822931) in exon 4 of the ABCC11 gene (538G-A, G180R; 607040.0001), which showed close association with the ear wax type. In a new series of 126 Japanese individuals, 87 of 88 individuals with dry ear wax were AA homozygotes, and all 38 individuals with the wet type were either GA heterozygotes or GG homozygotes, consistent with the previous conclusions that the wet cerumen phenotype is completely dominant to the dry type. By a functional assay, Yoshiura et al. (2006) demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. A 27-bp deletion in ABCC11 exon 29 (607040.0002) was also found in a few individuals with Asian ancestry. </p><p>By genotyping 225 Japanese women for the rs17822931 SNP in the ABCC11 gene, Miura et al. (2007) reported an association between ear wax type and apocrine colostrum secretion (see 117800) from the mammary gland on the first postpartum day. The absence of colostrum secretion was more common among women with dry ear wax (105 of 155, 67.7%) compared to women with wet ear wax (28 of 70, 40%). The authors noted that both colostrum and cerumen have a common origin in the secretory glands and suggested that the ABCC11 gene product may play a role in colostrum secretion independent of endocrine control. </p><p>Dry ear wax has been associated with reduced axillary odor (Matsunaga, 1962). In 18 Asian and 7 Caucasian individuals, Martin et al. (2010) determined the ABCC11 538G-A genotype and demonstrated that in AA homozygotes, the secretion of amino-acid conjugates of human-specific odorants was abolished and the secretion of steroidal odorants and their putative precursors were significantly reduced. Martin et al. (2010) concluded that ABCC11 plays a key role in the secretion of odorants and their precursors from apocrine sweat glands. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<p>In the study of Yoshiura et al. (2006), frequency of the A allele of the 538G-A polymorphism showed a north-south and east-west downward geographic gradient; worldwide, it was highest in Chinese and Koreans, and a common dry-type haplotype was retained among various ethnic populations. These results suggested that the allele A arose in northeast Asia and thereafter spread through the world. </p><p>The aboriginal Ainu population of the Japanese island of Hokkaido has an exceptionally high frequency of the dominant wet ear wax phenotype compared to those of neighboring Asian populations (see Yoshiura et al., 2006). Sato et al. (2009) genotyped specimens from various Okhotsk and Jomon/Epi-Jomon archaeologic sites on Hokkaido for rs17822931. Analysis of 31 specimens of the Okhotsk people and 19 specimens of the Jomon/Epi-Jomon people showed that the frequency of the wet-type allele was higher among the Jomon/Epi-Jomon compared to other northeastern Asian populations, including even modern Ainu. In contrast, the Okhotsk had relatively higher frequencies of the dry-type allele compared to Ainu and Jomon/Epi-Jomon. The findings suggested that gene flow occurred from northeastern Asia to descendants of the Jomon/Epi-Jomon through the Okhotsk, resulting in the establishment of the Ainu. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>2 Selected Examples):</strong>
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</h4>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 APOCRINE GLAND SECRETION, VARIATION IN</strong>
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</span>
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</h4>
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EAR WAX, WET/DRY, INCLUDED<br />
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AXILLARY ODOR, INCLUDED<br />
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COLOSTRUM SECRETION, INCLUDED
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<span class="mim-text-font">
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ABCC11, GLY180ARG ({dbSNP rs17822931})
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<br />
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SNP: rs17822931,
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gnomAD: rs17822931,
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ClinVar: RCV000003737, RCV000003738, RCV000003739, RCV004714398
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<span class="mim-text-font">
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<p>The wet cerumen phenotype is completely dominant to the dry type (see 117800). Yoshiura et al. (2006) demonstrated that the dry ear wax phenotype is recessive due to homozygous state of a 538G-A transition in exon 4 of the ABCC11 gene (rs17822931), predicting a gly180-to-arg (G180R) amino acid substitution. The AA genotype corresponds to dry ear wax, and GA and GG to the wet type. </p><p>By genotyping 225 Japanese women for the rs17822931 SNP in the ABCC11 gene, Miura et al. (2007) reported an association between ear wax type and apocrine colostrum secretion (see 117800) from the mammary gland on the first postpartum day. The absence of colostrum secretion was more common among women with dry ear wax (105 of 155, 67.7%) compared to women with wet ear wax (28 of 70, 40%). The authors noted that both colostrum and cerumen have a common origin in the secretory glands and suggested that the ABCC11 gene product may play a role in colostrum secretion independent of endocrine control.</p><p>Martin et al. (2010) performed chemical analysis of axillary sweat samples from 25 individuals with different ABCC11 538G-A genotypes, including 18 Asian participants (11 AA homozygotes, 5 AG heterozygotes, and 2 GG homozygotes) and 7 Caucasian participants (2 AG heterozygotes and 5 GG homozygotes). Levels of 3 glutamine conjugates that are precursors for key body odorants were below detection limits in all participants with the AA genotype but were present in all AG and GG individuals, indicating that ABCC11 is essential for secretion of amino-acid conjugates of relevant axillary odors (see 117800). RT-PCR analysis of armpit and face skin showed that ABCC11 was expressed only in the armpit specimens, suggesting that ABCC11 expression is specific to tissue containing apocrine sweat glands. Similarly, cDNA microarray analysis demonstrated 1.63-fold upregulation of ABCC11 expression in apocrine sweat glands versus 21.40-fold downregulation in eccrine sweat glands compared to a common reference. Immunohistochemistry revealed that the ABCC11 signal was concentrated in the same parts of apocrine glands in both AA and GG homozygotes, indicating that the nonfunctional ABCC11 protein is still translocated to its site of action. </p>
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</span>
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</div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 APOCRINE GLAND SECRETION, VARIATION IN</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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EAR WAX, WET/DRY, INCLUDED
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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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ABCC11, 27-BP DEL
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<br />
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SNP: rs387906296,
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gnomAD: rs387906296,
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ClinVar: RCV000003740
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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>Yoshiura et al. (2006) found that a 27-bp deletion in ABCC11 exon 29 was associated with the dry type of cerumen (see 117800) in a few individuals of Asian ancestry. </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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bera, T. K., Lee, S., Salvatore, G., Lee, B., Pastan, I.
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<strong>MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer.</strong>
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Molec. Med. 7: 509-516, 2001.
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[PubMed: 11591886]
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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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Martin, A., Saathoff, M., Kuhn, F., Max, H., Terstegen, L., Natsch, A.
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<strong>A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.</strong>
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J. Invest. Derm. 130: 529-540, 2010.
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[PubMed: 19710689]
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[Full Text: https://doi.org/10.1038/jid.2009.254]
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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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Matsunaga, E.
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<strong>The dimorphism in human normal cerumen.</strong>
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Ann. Hum. Genet. 25: 273-286, 1962.
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[PubMed: 14471313]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1962.tb01766.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Miura, K., Yoshiura, K., Miura, S., Shimada, T., Yamasaki, K., Yoshida, A., Nakayama, D., Shibata, Y., Niikawa, N., Masuzaki, H.
|
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<strong>A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.</strong>
|
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Hum. Genet. 121: 631-633, 2007.
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[PubMed: 17394018]
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[Full Text: https://doi.org/10.1007/s00439-007-0356-9]
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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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Sato, T., Amano, T., Ono, H., Ishida, H., Kodera, H., Matsumura, H., Yoneda, M., Masuda, R.
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<strong>Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan.</strong>
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J. Hum. Genet. 54: 409-413, 2009.
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[PubMed: 19557017]
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[Full Text: https://doi.org/10.1038/jhg.2009.56]
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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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Tammur, J., Prades, C., Arnould, I., Rzhetsky, A., Hutchinson, A., Adachi, M., Schuetz, J. D., Swoboda, K. J., Ptacek, L. J., Rosier, M., Dean, M., Allikmets, R.
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<strong>Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.</strong>
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Gene 273: 89-96, 2001.
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[PubMed: 11483364]
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[Full Text: https://doi.org/10.1016/s0378-1119(01)00572-8]
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<p class="mim-text-font">
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Tomita, H., Yamada, K., Ghadami, M., Ogura, T., Yanai, Y., Nakatomi, K., Sadamatsu, M., Masui, A., Kato, N., Niikawa, N.
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<strong>Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.</strong>
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Lancet 359: 2000-2002, 2002.
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[PubMed: 12076558]
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[Full Text: https://doi.org/10.1016/S0140-6736(02)08835-9]
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<li>
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<p class="mim-text-font">
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Yabuuchi, H., Shimizu, H., Takayanagi, S., Ishikawa, T.
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<strong>Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.</strong>
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Biochem. Biophys. Res. Commun. 288: 933-939, 2001.
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[PubMed: 11688999]
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[Full Text: https://doi.org/10.1006/bbrc.2001.5865]
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Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., and 27 others.
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<strong>A SNP in the ABCC11 gene is the determinant of human earwax type.</strong>
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Nature Genet. 38: 324-330, 2006.
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[PubMed: 16444273]
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[Full Text: https://doi.org/10.1038/ng1733]
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Marla J. F. O'Neill - updated : 11/22/2010<br>Cassandra L. Kniffin - updated : 1/7/2010<br>Cassandra L. Kniffin - updated : 6/6/2007<br>Victor A. McKusick - updated : 2/24/2006
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<span class="mim-text-font">
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Patricia A. Hartz : 6/17/2002
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carol : 10/18/2016<br>wwang : 02/28/2011<br>wwang : 11/23/2010<br>terry : 11/22/2010<br>wwang : 1/22/2010<br>ckniffin : 1/7/2010<br>wwang : 6/14/2007<br>ckniffin : 6/6/2007<br>alopez : 3/1/2006<br>alopez : 3/1/2006<br>terry : 2/24/2006<br>mgross : 6/17/2002
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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