2937 lines
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Entry
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- *148042 - KERATIN 6B, TYPE II; KRT6B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*148042</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/148042">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000185479;t=ENST00000252252" 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=3854" 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=148042" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000185479;t=ENST00000252252" 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_005555" 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_005555" 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=148042" 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=01012&isoform_id=01012_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/KRT6B" 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/386849,908790,908805,21961227,119617032,119617033,119703753,194383916,238054404,311396606" 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/P04259" 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=3854" 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=ENSG00000185479;t=ENST00000252252" 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=KRT6B" 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=KRT6B" 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+3854" 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/KRT6B" 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:3854" 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/3854" 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=chr12&hgg_gene=ENST00000252252.4&hgg_start=52446651&hgg_end=52452146&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://medlineplus.gov/genetics/gene/krt6b" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=148042[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 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=148042[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/ENSG00000185479" 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=KRT6B" 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=KRT6B" 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=KRT6B" 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=KRT6B&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/PA30232" 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:6444" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:1100845 MGI:1333768 MGI:3646318 MGI:3646939" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/KRT6B#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/batch/summary?idType=MGI&ids=MGI:1100845 MGI:1333768 MGI:3646318 MGI:3646939" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3854/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=3854" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002055;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002055 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002056;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002056 </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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=KRT6B&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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148042
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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KERATIN 6B, TYPE II; KRT6B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KERATIN, EPIDERMAL TYPE II, K6B; K6B<br />
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CYTOKERATIN 6B; CK6B<br />
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KB10
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KRT6B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KRT6B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/12/407?start=-3&limit=10&highlight=407">12q13.13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:52446651-52452146&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'})">12:52,446,651-52,452,146</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/12/407?start=-3&limit=10&highlight=407">
|
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12q13.13
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Pachyonychia congenita 4
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615728"> 615728 </a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/148042" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/148042" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
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<p>By screening a human skin cDNA library with probes derived from the KRT6A gene (<a href="/entry/148041">148041</a>), <a href="#7" class="mim-tip-reference" title="Takahashi, K., Paladini, R. D., Coulombe, P. A. <strong>Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.</strong> J. Biol. Chem. 270: 18581-18592, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7543104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7543104</a>] [<a href="https://doi.org/10.1074/jbc.270.31.18581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7543104">Takahashi et al. (1995)</a> cloned KRT6B, which they designated K6B. Like other K6 proteins, the deduced K6B protein contains 564 amino acids, and it has a calculated molecular mass of about 60 kD. K6B shares at least 97.6% identity with other K6 proteins. Northern blot analysis detected a 2.3-kb K6B transcript in cultured epithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7543104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Takahashi, K., Paladini, R. D., Coulombe, P. A. <strong>Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.</strong> J. Biol. Chem. 270: 18581-18592, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7543104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7543104</a>] [<a href="https://doi.org/10.1074/jbc.270.31.18581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7543104">Takahashi et al. (1995)</a> determined that the KRT6B gene contains 9 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7543104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Rosenberg, M., Fuchs, E., Le Beau, M. M., Eddy, R. L., Shows, T. B. <strong>Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.</strong> Cytogenet. Cell Genet. 57: 33-38, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1713141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1713141</a>] [<a href="https://doi.org/10.1159/000133109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1713141">Rosenberg et al. (1991)</a> assigned the KRT6B gene to chromosome 12 by Southern blot analysis of somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1713141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 03/09/2020."None>Stumpf (2020)</a> mapped the KRT6B gene to chromosome 12q13.13 based on an alignment of the KRT6B sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC034535" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC034535</a>) with the genomic sequence (GRCh38).</p>
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<p>Type I and type II keratins, encoded by genes on chromosome 17 and chromosome 12, respectively, form the heteropolymeric intermediate filament cytoskeleton, which is the main stress-bearing structure within epithelial cells. <a href="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a> identified KRT6B as the expression partner of keratin-17 (KRT17; <a href="/entry/148069">148069</a>). Coexpression of these genes was confirmed by in situ hybridization and immunohistochemical staining. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618173" 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="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a> described a family diagnosed with pachyonychia congenita of the Jackson-Lawler type in which the KRT17 locus (<a href="/entry/148069">148069</a>) on 17q was excluded and linkage to the type II keratin cluster on 12q was obtained (maximum lod = 3.31 at theta = 0.0). By molecular analysis of candidate keratins, <a href="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a> identified the first reported missense mutation in KRT6B (E472K; <a href="#0001">148042.0001</a>) and found that KRT6B is the expression partner of KRT17, analogous to the KRT6A/KRT16 pair. The results revealed the hitherto unknown role of the KRT6B isoform in epithelial biology, as well as genetic heterogeneity in pachyonychia congenita (PC4; <a href="/entry/615728">615728</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 families (families 29 and 30) segregating pachyonychia congenita, <a href="#5" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> described heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by <a href="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a>. Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry. <a href="#3" class="mim-tip-reference" title="Samuelov, L., Smith, F. J. D., Hansen, C. D., Sprecher, E. <strong>Revisiting pachyonychia congenita: a case-cohort study of 815 patients.</strong> Brit. J. Derm. 182: 738-746, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31823354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31823354</a>] [<a href="https://doi.org/10.1111/bjd.18794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31823354">Samuelov et al. (2020)</a> determined that 55% of PC4 patients with no fingernail involvement had the E472K mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31823354+16250206+9618173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 9 of 84 families with pachyonychia congenita recruited through the International Pachyonychia Congenita Research Registry, <a href="#8" class="mim-tip-reference" title="Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D. <strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong> Brit. J. Derm. 171: 343-355, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24611874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24611874</a>] [<a href="https://doi.org/10.1111/bjd.12958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24611874">Wilson et al. (2014)</a> identified heterozygous mutations in the KRT6B gene, including 1 novel mutation (L469R; <a href="#0002">148042.0002</a>). The authors noted that the analogous mutation had been reported in the KRT6A gene (<a href="/entry/148041#0004">148041.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24611874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 9-year-old Chinese girl with delayed onset of PC4, <a href="#1" class="mim-tip-reference" title="Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y. <strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong> J. Derm. 41: 108-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24354895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24354895</a>] [<a href="https://doi.org/10.1111/1346-8138.12349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24354895">Guo et al. (2014)</a> identified a heterozygous missense mutation (G499S; <a href="#0003">148042.0003</a>) in the KRT6B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24354895" 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="#9" class="mim-tip-reference" title="Wojcik, S. M., Longley, M. A., Roop, D. R. <strong>Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.</strong> J. Cell Biol. 154: 619-630, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200102079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489919">Wojcik et al. (2001)</a> generated mice deficient in both K6a and K6b. The majority of K6a/K6b double-null mice died of starvation within the first 2 weeks of life. The starvation was due to a localized disintegration of the dorsal tongue epithelium, which resulted in the buildup of a plaque of cell debris that severely impaired feeding. However, about 25% of K6a/K6b double-null mice survived to adulthood and had normal hair and nails. <a href="#9" class="mim-tip-reference" title="Wojcik, S. M., Longley, M. A., Roop, D. R. <strong>Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.</strong> J. Cell Biol. 154: 619-630, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200102079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489919">Wojcik et al. (2001)</a> identified a third K6 gene expressed in hair follicles, K6hf (<a href="/entry/609025">609025</a>), and suggested that its presence offers an explanation for the absence of hair and nail defects in K6a/K6b double-null mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11489919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs60627726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60627726;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs60627726" 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=rs60627726" 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=RCV000015739 OR RCV000057023" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015739, RCV000057023" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015739...</a>
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<p>In a family with autosomal dominant pachyonychia congenita of the Jackson-Lawler type (PC4; <a href="/entry/615728">615728</a>), <a href="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a> described a heterozygous 1459G-A mutation that abolished a BseRI restriction site and predicted a glu472-to-lys (E472K) substitution in the conserved helix termination motif of KRT6B. This mutation conformed to the CpG deamination model of mutation and the analogous mutation had been seen in a number of other type II keratins where this sequence is conserved. The clinical features pictured included focal palmoplantar keratoderma on the pressure points of the feet, and similar focal palmar callosities. Hypertrophic nail dystrophy affected all fingernails and toenails. Steatocystomas, on the skin of the trunk, for example, were widespread in postpubescent affected individuals. Mild lingual hyperkeratosis was observed on the margins of the tongue. <a href="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a> stated that oral leukokeratosis is prominent in Jadassohn-Lewandowski PC, since KRT16 and KRT6A are strongly expressed in these epithelia, but is not commonly observed in Jackson-Lawler PC. These observations indicated that expression of KRT6B, like KRT17, is topographically restricted in oral and lingual epithelia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 families (families 29 and 30) segregating pachyonychia congenita, described as the Jackson-Lawler type, <a href="#5" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by <a href="#4" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a>. Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16250206+9618173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 families (families 38-40) segregating pachyonychia congenita, <a href="#8" class="mim-tip-reference" title="Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D. <strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong> Brit. J. Derm. 171: 343-355, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24611874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24611874</a>] [<a href="https://doi.org/10.1111/bjd.12958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24611874">Wilson et al. (2014)</a> identified heterozygosity for the E472K mutation in the KRT6B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24611874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1592169234 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1592169234;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1592169234" 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=rs1592169234" 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=RCV001007639" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001007639" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001007639</a>
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<p>In affected members of a family (family 37) segregating pachyonychia congenita (PC4; <a href="/entry/615728">615728</a>), <a href="#8" class="mim-tip-reference" title="Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D. <strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong> Brit. J. Derm. 171: 343-355, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24611874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24611874</a>] [<a href="https://doi.org/10.1111/bjd.12958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24611874">Wilson et al. (2014)</a> identified a heterozygous c.1406T-G transversion in the KRT6B gene, resulting in a leu496-to-arg (L496R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24611874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61746355 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61746355;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/rs61746355?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=rs61746355" 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=rs61746355" 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=RCV000988855 OR RCV002067581" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000988855, RCV002067581" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000988855...</a>
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<p>In a 9-year-old Chinese girl with delayed-onset pachyonychia congenita, <a href="#1" class="mim-tip-reference" title="Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y. <strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong> J. Derm. 41: 108-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24354895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24354895</a>] [<a href="https://doi.org/10.1111/1346-8138.12349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24354895">Guo et al. (2014)</a> identified a heterozygous c.1495G-A transversion in exon 9 of the KRT6B gene, resulting in a gly499-to-ser (G499S) substitution in the tail domain. No mutation was detected in her parents or in 100 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24354895" 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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Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y.
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<strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong>
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J. Derm. 41: 108-109, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24354895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24354895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24354895" 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/10.1111/1346-8138.12349" target="_blank">Full Text</a>]
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Rosenberg, M., Fuchs, E., Le Beau, M. M., Eddy, R. L., Shows, T. B.
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<strong>Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.</strong>
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Cytogenet. Cell Genet. 57: 33-38, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1713141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1713141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1713141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Revisiting pachyonychia congenita: a case-cohort study of 815 patients.</strong>
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Brit. J. Derm. 182: 738-746, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31823354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31823354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31823354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I.
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<strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong>
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Hum. Molec. Genet. 7: 1143-1148, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I.
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<strong>The genetic basis of pachyonychia congenita.</strong>
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J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" 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.1087-0024.2005.10204.x" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Stumpf2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 03/09/2020.
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</p>
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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="Takahashi1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takahashi, K., Paladini, R. D., Coulombe, P. A.
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<strong>Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.</strong>
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J. Biol. Chem. 270: 18581-18592, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7543104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7543104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7543104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.270.31.18581" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Wilson2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D.
|
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<strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong>
|
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Brit. J. Derm. 171: 343-355, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24611874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24611874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24611874" 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/bjd.12958" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Wojcik2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wojcik, S. M., Longley, M. A., Roop, D. R.
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<strong>Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.</strong>
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J. Cell Biol. 154: 619-630, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11489919" 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/10.1083/jcb.200102079" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/09/2020
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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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Kelly A. Przylepa - updated : 03/06/2020<br>Carol A. Bocchini - updated : 4/10/2014<br>Matthew B. Gross - updated : 9/24/2008<br>Patricia A. Hartz - updated : 9/24/2008<br>Matthew B. Gross - updated : 11/12/2004<br>Victor A. McKusick - updated : 7/9/1998
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</div>
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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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Victor A. McKusick : 10/9/1991
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<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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alopez : 03/09/2020
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</span>
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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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carol : 03/06/2020<br>mgross : 11/11/2015<br>carol : 4/10/2014<br>carol : 4/10/2014<br>alopez : 4/3/2013<br>alopez : 9/8/2010<br>mgross : 9/24/2008<br>terry : 9/24/2008<br>carol : 1/17/2006<br>mgross : 11/12/2004<br>carol : 7/15/1998<br>terry : 7/9/1998<br>mark : 1/5/1998<br>alopez : 6/2/1997<br>supermim : 3/16/1992<br>carol : 10/9/1991
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</span>
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<span class="mim-font">
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<strong>*</strong> 148042
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<h3>
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<span class="mim-font">
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KERATIN 6B, TYPE II; KRT6B
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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KERATIN, EPIDERMAL TYPE II, K6B; K6B<br />
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CYTOKERATIN 6B; CK6B<br />
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KB10
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KRT6B</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 12q13.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:52,446,651-52,452,146 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</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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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q13.13
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<td>
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<span class="mim-font">
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Pachyonychia congenita 4
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</span>
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</td>
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<td>
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<span class="mim-font">
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615728
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By screening a human skin cDNA library with probes derived from the KRT6A gene (148041), Takahashi et al. (1995) cloned KRT6B, which they designated K6B. Like other K6 proteins, the deduced K6B protein contains 564 amino acids, and it has a calculated molecular mass of about 60 kD. K6B shares at least 97.6% identity with other K6 proteins. Northern blot analysis detected a 2.3-kb K6B transcript in cultured epithelial cells. </p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<span class="mim-text-font">
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<p>Takahashi et al. (1995) determined that the KRT6B gene contains 9 exons. </p>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rosenberg et al. (1991) assigned the KRT6B gene to chromosome 12 by Southern blot analysis of somatic cell hybrids. </p><p>Stumpf (2020) mapped the KRT6B gene to chromosome 12q13.13 based on an alignment of the KRT6B sequence (GenBank BC034535) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Type I and type II keratins, encoded by genes on chromosome 17 and chromosome 12, respectively, form the heteropolymeric intermediate filament cytoskeleton, which is the main stress-bearing structure within epithelial cells. Smith et al. (1998) identified KRT6B as the expression partner of keratin-17 (KRT17; 148069). Coexpression of these genes was confirmed by in situ hybridization and immunohistochemical staining. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Smith et al. (1998) described a family diagnosed with pachyonychia congenita of the Jackson-Lawler type in which the KRT17 locus (148069) on 17q was excluded and linkage to the type II keratin cluster on 12q was obtained (maximum lod = 3.31 at theta = 0.0). By molecular analysis of candidate keratins, Smith et al. (1998) identified the first reported missense mutation in KRT6B (E472K; 148042.0001) and found that KRT6B is the expression partner of KRT17, analogous to the KRT6A/KRT16 pair. The results revealed the hitherto unknown role of the KRT6B isoform in epithelial biology, as well as genetic heterogeneity in pachyonychia congenita (PC4; 615728). </p><p>In 2 families (families 29 and 30) segregating pachyonychia congenita, Smith et al. (2005) described heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by Smith et al. (1998). Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry. Samuelov et al. (2020) determined that 55% of PC4 patients with no fingernail involvement had the E472K mutation. </p><p>In 9 of 84 families with pachyonychia congenita recruited through the International Pachyonychia Congenita Research Registry, Wilson et al. (2014) identified heterozygous mutations in the KRT6B gene, including 1 novel mutation (L469R; 148042.0002). The authors noted that the analogous mutation had been reported in the KRT6A gene (148041.0004). </p><p>In a 9-year-old Chinese girl with delayed onset of PC4, Guo et al. (2014) identified a heterozygous missense mutation (G499S; 148042.0003) in the KRT6B gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wojcik et al. (2001) generated mice deficient in both K6a and K6b. The majority of K6a/K6b double-null mice died of starvation within the first 2 weeks of life. The starvation was due to a localized disintegration of the dorsal tongue epithelium, which resulted in the buildup of a plaque of cell debris that severely impaired feeding. However, about 25% of K6a/K6b double-null mice survived to adulthood and had normal hair and nails. Wojcik et al. (2001) identified a third K6 gene expressed in hair follicles, K6hf (609025), and suggested that its presence offers an explanation for the absence of hair and nail defects in K6a/K6b double-null mice. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>3 Selected Examples):</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
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</div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PACHYONYCHIA CONGENITA 4</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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KRT6B, GLU472LYS
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<br />
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SNP: rs60627726,
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ClinVar: RCV000015739, RCV000057023
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a family with autosomal dominant pachyonychia congenita of the Jackson-Lawler type (PC4; 615728), Smith et al. (1998) described a heterozygous 1459G-A mutation that abolished a BseRI restriction site and predicted a glu472-to-lys (E472K) substitution in the conserved helix termination motif of KRT6B. This mutation conformed to the CpG deamination model of mutation and the analogous mutation had been seen in a number of other type II keratins where this sequence is conserved. The clinical features pictured included focal palmoplantar keratoderma on the pressure points of the feet, and similar focal palmar callosities. Hypertrophic nail dystrophy affected all fingernails and toenails. Steatocystomas, on the skin of the trunk, for example, were widespread in postpubescent affected individuals. Mild lingual hyperkeratosis was observed on the margins of the tongue. Smith et al. (1998) stated that oral leukokeratosis is prominent in Jadassohn-Lewandowski PC, since KRT16 and KRT6A are strongly expressed in these epithelia, but is not commonly observed in Jackson-Lawler PC. These observations indicated that expression of KRT6B, like KRT17, is topographically restricted in oral and lingual epithelia. </p><p>In affected members of 2 families (families 29 and 30) segregating pachyonychia congenita, described as the Jackson-Lawler type, Smith et al. (2005) identified heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by Smith et al. (1998). Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry. </p><p>In affected members of 3 families (families 38-40) segregating pachyonychia congenita, Wilson et al. (2014) identified heterozygosity for the E472K mutation in the KRT6B gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PACHYONYCHIA CONGENITA 4</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT6B, LEU469ARG
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<br />
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SNP: rs1592169234,
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ClinVar: RCV001007639
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a family (family 37) segregating pachyonychia congenita (PC4; 615728), Wilson et al. (2014) identified a heterozygous c.1406T-G transversion in the KRT6B gene, resulting in a leu496-to-arg (L496R) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PACHYONYCHIA CONGENITA 4</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KRT6B, GLY499SER
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<br />
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SNP: rs61746355,
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gnomAD: rs61746355,
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ClinVar: RCV000988855, RCV002067581
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 9-year-old Chinese girl with delayed-onset pachyonychia congenita, Guo et al. (2014) identified a heterozygous c.1495G-A transversion in exon 9 of the KRT6B gene, resulting in a gly499-to-ser (G499S) substitution in the tail domain. No mutation was detected in her parents or in 100 unrelated controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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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Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y.
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<strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong>
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J. Derm. 41: 108-109, 2014.
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[PubMed: 24354895]
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[Full Text: https://doi.org/10.1111/1346-8138.12349]
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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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Rosenberg, M., Fuchs, E., Le Beau, M. M., Eddy, R. L., Shows, T. B.
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<strong>Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.</strong>
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Cytogenet. Cell Genet. 57: 33-38, 1991.
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[PubMed: 1713141]
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[Full Text: https://doi.org/10.1159/000133109]
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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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Samuelov, L., Smith, F. J. D., Hansen, C. D., Sprecher, E.
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<strong>Revisiting pachyonychia congenita: a case-cohort study of 815 patients.</strong>
|
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Brit. J. Derm. 182: 738-746, 2020.
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[PubMed: 31823354]
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[Full Text: https://doi.org/10.1111/bjd.18794]
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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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Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I.
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<strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong>
|
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Hum. Molec. Genet. 7: 1143-1148, 1998.
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[PubMed: 9618173]
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[Full Text: https://doi.org/10.1093/hmg/7.7.1143]
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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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Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I.
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<strong>The genetic basis of pachyonychia congenita.</strong>
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J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.
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[PubMed: 16250206]
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[Full Text: https://doi.org/10.1111/j.1087-0024.2005.10204.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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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 03/09/2020.
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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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Takahashi, K., Paladini, R. D., Coulombe, P. A.
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<strong>Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.</strong>
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J. Biol. Chem. 270: 18581-18592, 1995.
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[PubMed: 7543104]
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[Full Text: https://doi.org/10.1074/jbc.270.31.18581]
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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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Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D.
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<strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong>
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Brit. J. Derm. 171: 343-355, 2014.
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[PubMed: 24611874]
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[Full Text: https://doi.org/10.1111/bjd.12958]
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<li>
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<p class="mim-text-font">
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Wojcik, S. M., Longley, M. A., Roop, D. R.
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<strong>Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.</strong>
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J. Cell Biol. 154: 619-630, 2001.
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[PubMed: 11489919]
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[Full Text: https://doi.org/10.1083/jcb.200102079]
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</ol>
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/09/2020<br>Kelly A. Przylepa - updated : 03/06/2020<br>Carol A. Bocchini - updated : 4/10/2014<br>Matthew B. Gross - updated : 9/24/2008<br>Patricia A. Hartz - updated : 9/24/2008<br>Matthew B. Gross - updated : 11/12/2004<br>Victor A. McKusick - updated : 7/9/1998
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</span>
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Victor A. McKusick : 10/9/1991
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