2697 lines
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Entry
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- *612315 - KERATIN 6C, TYPE II; KRT6C
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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">*612315</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612315">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<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=ENSG00000170465;t=ENST00000252250" 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=286887" 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=612315" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000170465;t=ENST00000252250" 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_173086" 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_173086" 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=612315" 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=17247&isoform_id=17247_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/KRT6C" 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/908803,32964837,59803089,84040267,119617034,119617035,120659952,120660432,155969697,189053798,194388850" 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/P48668" 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 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=286887" 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=ENSG00000170465;t=ENST00000252250" 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=KRT6C" 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=KRT6C" 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+286887" 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/KRT6C" 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:286887" 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/286887" 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=ENST00000252250.7&hgg_start=52468516&hgg_end=52473805&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 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/krt6c" 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=612315[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612315[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/ENSG00000170465" 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=KRT6C" 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=KRT6C" 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=KRT6C" 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=KRT6C&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/PA134891227" 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:20406" 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/KRT6C#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/286887/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=286887" 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=KRT6C&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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612315
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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 6C, TYPE II; KRT6C
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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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K6C<br />
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KB12<br />
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KERATIN 6E; KRT6E; K6E<br />
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KERATIN 6H; K6H
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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=KRT6C" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KRT6C</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/12/408?start=-3&limit=10&highlight=408">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=chr12:52468516-52473805&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'})">12:52,468,516-52,473,805</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/12/408?start=-3&limit=10&highlight=408">
|
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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">
|
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Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
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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/615735"> 615735 </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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612315" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612315" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>KRT6C belongs to the keratin family of epithelial-specific intermediate filament proteins. Keratins expressed in 'soft' epithelial tissues (i.e., excluding hair and nail) have been subdivided into type I and type II keratins. As keratin filament assembly begins with the formation of a type I-type II heterodimer, epithelial cells express at least 1 member of each subtype. Pairwise keratin gene expression is regulated in an epithelial tissue-type and differentiation-specific manner, creating patterns that are highly conserved among mammalian species (summary by <a href="#4" 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>). <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>By screening a skin cDNA library with probes derived from the KRT6A gene (<a href="/entry/148041">148041</a>), <a href="#4" 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 KRT6C, which they designated K6E. Like the other K6 proteins, the deduced K6E protein contains 564 amino acids, and it has a calculated molecular mass of 60.2 kD. K6E shares at least 97.6% identity with other K6 proteins. <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><p>By RT-PCR, <a href="#5" class="mim-tip-reference" title="Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D. <strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong> J. Invest. Derm. 130: 425-429, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>] [<a href="https://doi.org/10.1038/jid.2009.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19609311">Wilson et al. (2010)</a> demonstrated that KRT6C is expressed in mRNA derived from the plantar epidermis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19609311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 families with focal palmoplantar keratoderma (<a href="/entry/615735">615735</a>), in which affected individuals were negative for mutation in the KRT6A and KRT6B (<a href="/entry/148042">148042</a>) genes, <a href="#5" class="mim-tip-reference" title="Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D. <strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong> J. Invest. Derm. 130: 425-429, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>] [<a href="https://doi.org/10.1038/jid.2009.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19609311">Wilson et al. (2010)</a> identified heterozygosity for in-frame deletions in KRT6C (<a href="#0001">612315.0001</a> and <a href="#0002">612315.0002</a>). The affected individuals had very minor or absent nail changes and relatively mild, site-restricted keratoderma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19609311" 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 3 affected members of a Japanese family with focal or diffuse keratoderma in a primarily plantar distribution, who were negative for mutation in the KRT6A, KRT6B, KRT16 (<a href="/entry/148067">148067</a>), and KRT17 (<a href="/entry/148069">148069</a>) genes, <a href="#1" class="mim-tip-reference" title="Akasaka, E., Nakano, H., Nakano, A., Toyomaki, Y., Takiyoshi, N., Rokunohe, D., Nishikawa, Y., Korekawa, A., Matsuzaki, Y., Mitsuhashi, Y., Sawamura, D. <strong>Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.</strong> Brit. J. Derm. 165: 1290-1292, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21801157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21801157</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2011.10552.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21801157">Akasaka et al. (2011)</a> identified a heterozygous missense mutation in the KRT6C gene (E472K; <a href="#0003">612315.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21801157" 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 father and daughter with focal plantar keratoderma, <a href="#3" class="mim-tip-reference" title="Kubo, A., Oura, Y., Hirano, T., Aoyama, Y., Sato, S., Nakamura, K., Takae, Y., Amagai, M. <strong>Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.</strong> J. Derm. 40: 553-557, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23662636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23662636</a>] [<a href="https://doi.org/10.1111/1346-8138.12185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23662636">Kubo et al. (2013)</a> sequenced the candidate gene KRT6C and identified heterozygosity for the E472K mutation, which was not present in an unaffected son. Transfection studies in HaCaT cells showed collapse of the keratin filament network in a dose-dependent manner, suggesting that the mutation has a dominant-negative effect on keratin filament network formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23662636" 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">rs267607474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607474;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=rs267607474" 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=rs267607474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a father and son in 1 family as well as the affected members of an unrelated 4-generation family with focal palmoplantar keratoderma (PPKNEFD; <a href="/entry/615735">615735</a>), <a href="#5" class="mim-tip-reference" title="Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D. <strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong> J. Invest. Derm. 130: 425-429, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>] [<a href="https://doi.org/10.1038/jid.2009.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19609311">Wilson et al. (2010)</a> identified heterozygosity for a 3-bp deletion (c.516_518delCAA) in exon 1 of the KRT6C gene, resulting in an in-frame deletion (Asn172del) within the conserved N-terminal end of the helix 1A domain. The mutation segregated with disease in both families; however, the 3-bp deletion was also present in 3 of 335 population controls. <a href="#5" class="mim-tip-reference" title="Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D. <strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong> J. Invest. Derm. 130: 425-429, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>] [<a href="https://doi.org/10.1038/jid.2009.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19609311">Wilson et al. (2010)</a> suggested that this KRT6C mutation might exist at a low level in the general population, but that the relatively mild plantar callus formation associated with the mutation might not always come to clinical attention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19609311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a 4-generation family with focal palmoplantar keratoderma (PPKNEFD; <a href="/entry/615735">615735</a>), <a href="#5" class="mim-tip-reference" title="Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D. <strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong> J. Invest. Derm. 130: 425-429, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>] [<a href="https://doi.org/10.1038/jid.2009.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19609311">Wilson et al. (2010)</a> identified heterozygosity for a 27-bp deletion (c.1384_1410del27) in exon 7 of the KRT6C gene. This mutation resulted in an in-frame deletion (Ile462_Glu470del) with loss of most of the highly conserved helix termination motif from the helix 2B domain, a sequence critically important for keratin intermediate filament assembly. The mutation was not found in unaffected family members or in 354 population controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19609311" 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">rs587777292 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777292;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=rs587777292" 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=rs587777292" 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=RCV000114418 OR RCV000255266" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114418, RCV000255266" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114418...</a>
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<p>In 3 affected members of a Japanese family with focal or diffuse palmoplantar keratoderma (PPKNEFD; <a href="/entry/615735">615735</a>), <a href="#5" class="mim-tip-reference" title="Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D. <strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong> J. Invest. Derm. 130: 425-429, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>] [<a href="https://doi.org/10.1038/jid.2009.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19609311">Wilson et al. (2010)</a> identified heterozygosity for a c.1414G-A transition in exon 7 of the KRT6C gene, resulting in a glu472-to-lys (E472K) substitution at a conserved residue in the C terminus of the 2B domain. The mutation, which segregated with disease in the family, was not found in 104 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19609311" 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 father and daughter with focal plantar keratoderma, <a href="#3" class="mim-tip-reference" title="Kubo, A., Oura, Y., Hirano, T., Aoyama, Y., Sato, S., Nakamura, K., Takae, Y., Amagai, M. <strong>Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.</strong> J. Derm. 40: 553-557, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23662636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23662636</a>] [<a href="https://doi.org/10.1111/1346-8138.12185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23662636">Kubo et al. (2013)</a> sequenced the candidate gene KRT6C and identified heterozygosity for the E472K mutation, which was not present in an unaffected son. Palmar skin as well as the nails of hands and feet were normal in the affected individuals. Analysis of transfected HaCaT cells showed that cells expressing low levels of mutant protein exhibited no alterations in the keratin filament network, whereas cells expressing high levels displayed a collapsed network of keratin filaments. Semiquantification of exogenously expressed KRT6C confirmed that the collapse of the keratin filament network occurred in a manner dependent on the level of expression of mutant keratin-6c. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23662636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Akasaka2011" class="mim-anchor"></a>
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Akasaka, E., Nakano, H., Nakano, A., Toyomaki, Y., Takiyoshi, N., Rokunohe, D., Nishikawa, Y., Korekawa, A., Matsuzaki, Y., Mitsuhashi, Y., Sawamura, D.
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<strong>Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.</strong>
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Brit. J. Derm. 165: 1290-1292, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21801157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21801157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21801157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.2011.10552.x" target="_blank">Full Text</a>]
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<a id="Hartz2008" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 9/24/2008.
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Kubo, A., Oura, Y., Hirano, T., Aoyama, Y., Sato, S., Nakamura, K., Takae, Y., Amagai, M.
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<strong>Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.</strong>
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J. Derm. 40: 553-557, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23662636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23662636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23662636" 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/10.1111/1346-8138.12185" target="_blank">Full Text</a>]
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<a id="Takahashi1995" class="mim-anchor"></a>
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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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Wilson, N. J., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D.
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<strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong>
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J. Invest. Derm. 130: 425-429, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19609311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19609311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19609311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2009.215" target="_blank">Full Text</a>]
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Matthew B. Gross - updated : 09/27/2024
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Marla J. F. O'Neill - updated : 7/3/2014<br>Marla J. F. O'Neill - updated : 4/11/2014
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Patricia A. Hartz : 9/24/2008
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mgross : 11/11/2015<br>alopez : 7/7/2014<br>mcolton : 7/3/2014<br>alopez : 4/11/2014<br>alopez : 4/10/2014<br>mcolton : 4/9/2014<br>mgross : 9/24/2008
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<strong>*</strong> 612315
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KERATIN 6C, TYPE II; KRT6C
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K6C<br />
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KB12<br />
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KERATIN 6E; KRT6E; K6E<br />
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KERATIN 6H; K6H
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<strong><em>HGNC Approved Gene Symbol: KRT6C</em></strong>
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Cytogenetic location: 12q13.13
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<span class="small">(from NCBI)</span>
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Phenotype
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Inheritance
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Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
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615735
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Autosomal dominant
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3
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<strong>Description</strong>
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<p>KRT6C belongs to the keratin family of epithelial-specific intermediate filament proteins. Keratins expressed in 'soft' epithelial tissues (i.e., excluding hair and nail) have been subdivided into type I and type II keratins. As keratin filament assembly begins with the formation of a type I-type II heterodimer, epithelial cells express at least 1 member of each subtype. Pairwise keratin gene expression is regulated in an epithelial tissue-type and differentiation-specific manner, creating patterns that are highly conserved among mammalian species (summary by Takahashi et al., 1995). </p>
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<strong>Cloning and Expression</strong>
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<p>By screening a skin cDNA library with probes derived from the KRT6A gene (148041), Takahashi et al. (1995) cloned KRT6C, which they designated K6E. Like the other K6 proteins, the deduced K6E protein contains 564 amino acids, and it has a calculated molecular mass of 60.2 kD. K6E shares at least 97.6% identity with other K6 proteins. </p><p>By RT-PCR, Wilson et al. (2010) demonstrated that KRT6C is expressed in mRNA derived from the plantar epidermis. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Hartz (2008) mapped the KRT6C gene to chromosome 12q13.13 based on an alignment of the KRT6C sequence (GenBank L42611) with the genomic sequence (build 36.1).</p>
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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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<span class="mim-text-font">
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<p>In 3 families with focal palmoplantar keratoderma (615735), in which affected individuals were negative for mutation in the KRT6A and KRT6B (148042) genes, Wilson et al. (2010) identified heterozygosity for in-frame deletions in KRT6C (612315.0001 and 612315.0002). The affected individuals had very minor or absent nail changes and relatively mild, site-restricted keratoderma. </p><p>In 3 affected members of a Japanese family with focal or diffuse keratoderma in a primarily plantar distribution, who were negative for mutation in the KRT6A, KRT6B, KRT16 (148067), and KRT17 (148069) genes, Akasaka et al. (2011) identified a heterozygous missense mutation in the KRT6C gene (E472K; 612315.0003). </p><p>In a father and daughter with focal plantar keratoderma, Kubo et al. (2013) sequenced the candidate gene KRT6C and identified heterozygosity for the E472K mutation, which was not present in an unaffected son. Transfection studies in HaCaT cells showed collapse of the keratin filament network in a dose-dependent manner, suggesting that the mutation has a dominant-negative effect on keratin filament network formation. </p>
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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>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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PALMOPLANTAR KERATODERMA, FOCAL</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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KRT6C, 3-BP DEL, ASN172
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<br />
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SNP: rs267607474,
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ClinVar: RCV000057500, RCV001799618
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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 father and son in 1 family as well as the affected members of an unrelated 4-generation family with focal palmoplantar keratoderma (PPKNEFD; 615735), Wilson et al. (2010) identified heterozygosity for a 3-bp deletion (c.516_518delCAA) in exon 1 of the KRT6C gene, resulting in an in-frame deletion (Asn172del) within the conserved N-terminal end of the helix 1A domain. The mutation segregated with disease in both families; however, the 3-bp deletion was also present in 3 of 335 population controls. Wilson et al. (2010) suggested that this KRT6C mutation might exist at a low level in the general population, but that the relatively mild plantar callus formation associated with the mutation might not always come to clinical attention. </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 PALMOPLANTAR KERATODERMA, FOCAL</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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KRT6C, 27-BP DEL, NT1384
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<br />
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SNP: rs267607475,
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ClinVar: RCV000057499, RCV001799616
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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 4-generation family with focal palmoplantar keratoderma (PPKNEFD; 615735), Wilson et al. (2010) identified heterozygosity for a 27-bp deletion (c.1384_1410del27) in exon 7 of the KRT6C gene. This mutation resulted in an in-frame deletion (Ile462_Glu470del) with loss of most of the highly conserved helix termination motif from the helix 2B domain, a sequence critically important for keratin intermediate filament assembly. The mutation was not found in unaffected family members or in 354 population 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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PALMOPLANTAR KERATODERMA, FOCAL OR DIFFUSE</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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KRT6C, GLU472LYS
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<br />
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SNP: rs587777292,
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ClinVar: RCV000114418, RCV000255266
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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 3 affected members of a Japanese family with focal or diffuse palmoplantar keratoderma (PPKNEFD; 615735), Wilson et al. (2010) identified heterozygosity for a c.1414G-A transition in exon 7 of the KRT6C gene, resulting in a glu472-to-lys (E472K) substitution at a conserved residue in the C terminus of the 2B domain. The mutation, which segregated with disease in the family, was not found in 104 controls. </p><p>In a father and daughter with focal plantar keratoderma, Kubo et al. (2013) sequenced the candidate gene KRT6C and identified heterozygosity for the E472K mutation, which was not present in an unaffected son. Palmar skin as well as the nails of hands and feet were normal in the affected individuals. Analysis of transfected HaCaT cells showed that cells expressing low levels of mutant protein exhibited no alterations in the keratin filament network, whereas cells expressing high levels displayed a collapsed network of keratin filaments. Semiquantification of exogenously expressed KRT6C confirmed that the collapse of the keratin filament network occurred in a manner dependent on the level of expression of mutant keratin-6c. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akasaka, E., Nakano, H., Nakano, A., Toyomaki, Y., Takiyoshi, N., Rokunohe, D., Nishikawa, Y., Korekawa, A., Matsuzaki, Y., Mitsuhashi, Y., Sawamura, D.
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|
<strong>Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.</strong>
|
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Brit. J. Derm. 165: 1290-1292, 2011.
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[PubMed: 21801157]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2011.10552.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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 9/24/2008.
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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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Kubo, A., Oura, Y., Hirano, T., Aoyama, Y., Sato, S., Nakamura, K., Takae, Y., Amagai, M.
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<strong>Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.</strong>
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J. Derm. 40: 553-557, 2013.
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[PubMed: 23662636]
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[Full Text: https://doi.org/10.1111/1346-8138.12185]
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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., Messenger, A. G., Leachman, S. A., O'Toole, E. A., Lane, E. B., McLean, W. H. I., Smith, F. J. D.
|
|
<strong>Keratin K6c mutations cause focal palmoplantar keratoderma.</strong>
|
|
J. Invest. Derm. 130: 425-429, 2010.
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[PubMed: 19609311]
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[Full Text: https://doi.org/10.1038/jid.2009.215]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 09/27/2024<br>Marla J. F. O'Neill - updated : 7/3/2014<br>Marla J. F. O'Neill - updated : 4/11/2014
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 9/24/2008
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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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Edit History:
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<span class="mim-text-font">
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mgross : 09/27/2024<br>mgross : 11/11/2015<br>alopez : 7/7/2014<br>mcolton : 7/3/2014<br>alopez : 4/11/2014<br>alopez : 4/10/2014<br>mcolton : 4/9/2014<br>mgross : 9/24/2008
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