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Entry
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- *148041 - KERATIN 6A, TYPE II; KRT6A
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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">*148041</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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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/148041">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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=ENSG00000205420;t=ENST00000330722" 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=3853" 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=148041" 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=ENSG00000205420;t=ENST00000330722" 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_005554" 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_005554" 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=148041" 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=01011&isoform_id=01011_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/KRT6A" 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/34069,908779,908801,914833,1346344,5031839,14250682,15559584,30582637,46812692,115528708,119617037,141795139,158261513,194377194,194387918,194387990,957949671,957949674" 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/P02538" 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=3853" 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=ENSG00000205420;t=ENST00000330722" 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=KRT6A" 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=KRT6A" 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+3853" 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/KRT6A" 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:3853" 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/3853" 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=ENST00000330722.7&hgg_start=52487176&hgg_end=52493257&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/krt6a" 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=148041[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=148041[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/ENSG00000205420" 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=KRT6A" 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=KRT6A" 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=KRT6A" 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=KRT6A&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/PA30231" 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:6443" 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/KRT6A#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/3853/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://omia.org/OMIA000394/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3853" 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=KRT6A&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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148041
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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 6A, TYPE II; KRT6A
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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, K6A; K6A<br />
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KB6
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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=KRT6A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KRT6A</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/12/409?start=-3&limit=10&highlight=409">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=chr12:52487176-52493257&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'})">12:52,487,176-52,493,257</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/12/409?start=-3&limit=10&highlight=409">
|
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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 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615726"> 615726 </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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/148041" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/148041" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<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="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>Keratin 6A (K6A) is the dominant K6 isoform. <a href="#6" 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> screened human genomic and skin cDNA libraries with probes derived from the K6B gene (<a href="/entry/148042">148042</a>), and isolated clones containing the full-length gene and cDNA predicted to encode K6a. As many as 6 different human K6 protein isoforms that are highly related at the gene structure, nucleotide sequence, and predicted amino acid sequence levels were identified. <a href="#6" 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> proposed an evolutionary model in which the multiplicity of human K6 genes is explained by successive gene duplication events. They confirmed that K6A is clearly the dominant K6 isoform in skin tissue samples and cultured epithelial cell lines and that the various isoforms are differentially regulated within and between epithelial tissue types. <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="#8" class="mim-tip-reference" title="Tyner, A., Eichman, M., Fuchs, E. <strong>The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes.</strong> Proc. Nat. Acad. Sci. 82: 4683-4687, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2410904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2410904</a>] [<a href="https://doi.org/10.1073/pnas.82.14.4683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2410904">Tyner et al. (1985)</a> provided information on the structure of a type II keratin gene. A recent duplication in the basic keratin gene family gave rise to 2 copies of the human K6 gene. One of the copies is expressed at very low levels and may be at a still unextinguished step on the way to becoming a traditional pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2410904" 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="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 KRT6A 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="#3" 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 KRT6A gene to chromosome 12 by use of Southern blot analysis of somatic cell hybrids. By in situ hybridization of metaphase chromosomes, they demonstrated that the KRT6A gene is located in region 12q12-q14. <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>
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<p>In affected members of a Slovenian family segregating pachyonychia congenita described as the Jadassohn-Lewandowsky type (PC3; <a href="/entry/615726">615726</a>), <a href="#1" class="mim-tip-reference" title="Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J. <strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong> Nature Genet. 10: 363-365, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545493</a>] [<a href="https://doi.org/10.1038/ng0795-363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545493">Bowden et al. (1995)</a> identified heterozygosity for a mutation in the KRT6A gene (<a href="#0001">148041.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545493" 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="#7" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> identified 3 novel mutations (<a href="#0002">148041.0002</a>-<a href="#0004">148041.0004</a>) and 2 previously identified mutations (see, e.g., <a href="#0001">148041.0001</a>) in the KRT6A gene in patients with pachyonychia congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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="#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 keratin mutations in 30 probands from the International Pachyonychia Congenita Research Registry, 17 of whom had mutations in the KRT6A gene (see, e.g., <a href="#0001">148041.0001</a> and <a href="#0005">148041.0005</a>-<a href="#0008">148041.0008</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'})"><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 32-year-old Chinese woman with pachyonychia congenita, <a href="#2" class="mim-tip-reference" title="Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N. <strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong> Europ. J. Derm. 22: 476-480, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>] [<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22668561">Du et al. (2012)</a> identified heterozygosity for a splice site mutation in the KRT6A gene (<a href="#0009">148041.0009</a>). Her 7-year-old daughter, who had only focal plantar hyperkeratosis with no nail or hand involvement, was also heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" 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 patient with sporadic PC3, <a href="#9" 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., Sprecher, E., Smith, F. J. <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 nonsense mutation in the KRT6A gene (E461X; <a href="#0010">148041.0010</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>
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<p><a href="#11" class="mim-tip-reference" title="Wong, P., Colucci-Guyon, E., Takahashi, K., Gu, C., Babinet, C., Coulombe, P. A. <strong>Introducing a null mutation in the mouse K6-alpha and K6-beta genes reveals their essential structural role in the oral mucosa.</strong> J. Cell Biol. 150: 921-928, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10953016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10953016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10953016[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.150.4.921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10953016">Wong et al. (2000)</a> found that K6-null mice have changes in the oral mucosa resembling those of pachyonychia congenita. They speculated on why the mice lacked obvious alterations in nail morphology, the conspicuous feature in pachyonychia congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10953016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="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="#10" 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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<p><a href="#9" 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., Sprecher, E., Smith, F. J. <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> cited this mutation as c.516_518delCAA (Asn172del). <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 Slovenian family, <a href="#1" class="mim-tip-reference" title="Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J. <strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong> Nature Genet. 10: 363-365, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545493</a>] [<a href="https://doi.org/10.1038/ng0795-363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545493">Bowden et al. (1995)</a> observed pachyonychia congenita of the Jadassohn-Lewandowsky type (PC3; <a href="/entry/615726">615726</a>) in the grandfather, father, and daughter. The father and daughter had classic changes with thickened nails, palmoplantar keratoderma, and leukokeratosis of the tongue. The grandfather had only minor nail changes and mild keratoderma (raising the possibility of somatic and germinal mosaicism). No mutation was found in KRT16 and KRT17 in which mutations had been found in other patients with pachyonychia congenita. They identified heterozygosity for a 3-bp deletion (AAC) in exon 1 of the K6A gene, which removed a highly conserved asparagine residue from position 8 (Asn8del) of the 1A helical domain. The mutation was present in heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545493" 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="#7" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> found this mutation, which they designated N171del (Asn171del), in 1 familial and 2 sporadic cases of PC. The analogous mutation in the KRT4 gene (<a href="/entry/123940#0001">123940.0001</a>) was reported in 2 cases of white sponge nevus (<a href="#4" class="mim-tip-reference" title="Rugg, E. L., McLean, W. H. I., Allison, W. E., Lunny, D. P., Macleod, R. I., Felix, D. H., Lane, E. B., Munro, C. S. <strong>A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.</strong> Nature Genet. 11: 450-452, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493030</a>] [<a href="https://doi.org/10.1038/ng1295-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493030">Rugg et al., 1995</a>). This mutation is consistent with DNA polymerase slippage during replication of 3 tandem CAA repeats present in exon 1 of several type II keratin genes, including KRT4 and KRT6A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11886499+7493030" 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 familial and 3 sporadic cases of 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> identified heterozygosity for the Asn171del mutation in the KRT6A gene. <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'})"><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> rs28933087 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933087;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/rs28933087?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=rs28933087" 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=rs28933087" 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=RCV000015741 OR RCV000057013" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015741, RCV000057013" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015741...</a>
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<p>In a patient with sporadic pachyonychia congenita (PC3; <a href="/entry/615726">615726</a>), <a href="#7" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> identified a c.520T-G transversion in the KRT6A gene that resulted in a phe174-to-val (F174V) amino acid substitution. This mutation is F10V in the 1A domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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">rs60554162 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60554162;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=rs60554162" 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=rs60554162" 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=RCV000015742 OR RCV000056998" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015742, RCV000056998" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015742...</a>
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<p>In a patient with sporadic PC (PC3; <a href="/entry/615726">615726</a>), <a href="#7" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> identified a c.1414G-to-A transition in the KRT6A gene that resulted in a glu472-to-lys (E472K) amino acid substitution. This mutation is E117K in the 2B domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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">rs57052654 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57052654;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=rs57052654" 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=rs57052654" 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=RCV000015743 OR RCV000056997" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015743, RCV000056997" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015743...</a>
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<p>In a patient with sporadic PC (PC3; <a href="/entry/615726">615726</a>), <a href="#7" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> reported a c.1406T-G transversion in the KRT6A gene that resulted in a leu469-to-arg (L469R) amino acid substitution. This mutation is L114R in the 2B domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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">rs57052654 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57052654;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=rs57052654" 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=rs57052654" 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=RCV000056996 OR RCV000144075" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056996, RCV000144075" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056996...</a>
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<p>In a patient with sporadic pachyonychia congenita (PC3; <a href="/entry/615726">615726</a>), <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 a c.1406T-C transition in the KRT6A gene, resulting in a leu469-to-pro (L469P) substitution in the highly conserved helix termination motif of the 2B domain. <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'})"><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">rs58556099 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58556099;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=rs58556099" 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=rs58556099" 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=RCV000057010 OR RCV000128820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057010, RCV000128820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057010...</a>
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<p>In a patient with sporadic pachyonychia congenita (PC3; <a href="/entry/615726">615726</a>), <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 a c.512A-G transition in the KRT6A gene, resulting in an asn171-to-ser (N171S) substitution in the highly conserved helix initiation motif of the 1A domain. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 PACHYONYCHIA CONGENITA 3</strong>
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KRT6A, ASN171LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs59685571 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs59685571;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=rs59685571" 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=rs59685571" 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=RCV000057011 OR RCV000128821" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057011, RCV000128821" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057011...</a>
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<p>In a patient from a family with pachyonychia congenita (PC3; <a href="/entry/615726">615726</a>), <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 a c.513C-A transversion in the KRT6A gene, resulting in an asn171-to-lys (N171K) substitution in the highly conserved helix initiation motif of the 1A domain. <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'})"><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>.0008 PACHYONYCHIA CONGENITA 3</strong>
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KRT6A, PHE174SER
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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> rs61145796 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61145796;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/rs61145796?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=rs61145796" 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=rs61145796" 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=RCV000057014 OR RCV000144078" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057014, RCV000144078" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057014...</a>
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<p>In 2 patients with sporadic pachyonychia congenita (PC3; <a href="/entry/615726">615726</a>), <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 a c.521T-C transition in the KRT6A gene, resulting in a phe174-to-ser (F174S) substitution in the highly conserved helix initiation motif of the 1A domain. <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'})"><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>.0009 PACHYONYCHIA CONGENITA 3</strong>
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KRT6A, IVS8AS, A-C, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113369052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113369052;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=rs113369052" 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=rs113369052" 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=RCV000144079" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144079" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144079</a>
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<p>In a 32-year-old Chinese woman with pachyonychia congenita (PC3; <a href="/entry/615726">615726</a>), <a href="#2" class="mim-tip-reference" title="Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N. <strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong> Europ. J. Derm. 22: 476-480, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>] [<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22668561">Du et al. (2012)</a> identified heterozygosity for an A-to-C transversion at position -2 in intron 8 of the KRT6A gene (IVS8-2A-C), resulting in an 11-bp deletion (c.1460_1470del) at the beginning of exon 9, due to activation of a downstream splice acceptor site. The deletion was predicted to cause a frameshift resulting in a premature termination codon (Ser487PhefsTer72). The proband had toenail thickening, plantar hyperkeratosis with fissuring, and mild focal palmar hyperkeratosis but no fingernail changes; she also exhibited oral leukokeratosis, chapped lips, and fissured tongue. Her 7-year-old daughter, who was also heterozygous for the splice site mutation, had focal plantar hyperkeratosis, fissured tongue, and gingivitis, but no nail or hand involvement. Both patients reported hyperhidrosis of the hands and feet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 PACHYONYCHIA CONGENITA 3</strong>
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KRT6A, GLU461TER
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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> rs267607468 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607468;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/rs267607468?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=rs267607468" 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=rs267607468" 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=RCV001027734" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001027734" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001027734</a>
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<p>In a patient (family 21) with sporadic pachyonychia congenita-3 (PC3; <a href="/entry/615726">615726</a>), <a href="#9" 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., Sprecher, E., Smith, F. J. <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.1381G-T transversion in the KRT6A gene, resulting in a glu461-to-stop (E461X) substitution at the start of the helix termination motif in the 2B domain and a protein lacking the helix termination motif and tail domain. <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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<a id="1" class="mim-anchor"></a>
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<a id="Bowden1995" class="mim-anchor"></a>
|
|
<div class="">
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<p class="mim-text-font">
|
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Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J.
|
|
<strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong>
|
|
Nature Genet. 10: 363-365, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545493" 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/ng0795-363" target="_blank">Full Text</a>]
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|
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</div>
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|
</li>
|
|
|
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Du2012" class="mim-anchor"></a>
|
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|
Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N.
|
|
<strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong>
|
|
Europ. J. Derm. 22: 476-480, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" 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/10.1684/ejd.2012.1773" target="_blank">Full Text</a>]
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|
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|
|
<a id="3" class="mim-anchor"></a>
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<a id="Rosenberg1991" class="mim-anchor"></a>
|
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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://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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[<a href="https://doi.org/10.1159/000133109" target="_blank">Full Text</a>]
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|
|
|
|
<li>
|
|
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<a id="Rugg1995" class="mim-anchor"></a>
|
|
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|
|
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|
|
Rugg, E. L., McLean, W. H. I., Allison, W. E., Lunny, D. P., Macleod, R. I., Felix, D. H., Lane, E. B., Munro, C. S.
|
|
<strong>A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.</strong>
|
|
Nature Genet. 11: 450-452, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493030" 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/ng1295-450" target="_blank">Full Text</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.
|
|
<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://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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|
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|
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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://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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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
|
|
<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
|
|
J. Invest. Derm. 117: 1391-1396, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank">Full Text</a>]
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|
|
<div class="">
|
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<p class="mim-text-font">
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|
Tyner, A., Eichman, M., Fuchs, E.
|
|
<strong>The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 4683-4687, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2410904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2410904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2410904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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., Sprecher, E., Smith, F. J.
|
|
<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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|
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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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<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.
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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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Wong, P., Colucci-Guyon, E., Takahashi, K., Gu, C., Babinet, C., Coulombe, P. A.
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<strong>Introducing a null mutation in the mouse K6-alpha and K6-beta genes reveals their essential structural role in the oral mucosa.</strong>
|
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J. Cell Biol. 150: 921-928, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10953016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10953016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10953016[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=10953016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kelly A. Przylepa - updated : 03/19/2020
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Marla J. F. O'Neill - updated : 9/18/2014<br>Carol A. Bocchini - updated : 4/10/2014<br>Patricia A. Hartz - updated : 9/24/2008<br>Matthew B. Gross - updated : 11/12/2004<br>Gary A. Bellus - updated : 5/19/2003<br>Victor A. McKusick - updated : 9/28/2000
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Victor A. McKusick : 7/11/1990
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carol : 02/26/2020<br>mgross : 11/11/2015<br>carol : 9/18/2014<br>carol : 4/10/2014<br>joanna : 4/2/2014<br>alopez : 9/8/2010<br>mgross : 9/24/2008<br>terry : 9/24/2008<br>carol : 8/28/2006<br>mgross : 11/12/2004<br>alopez : 5/19/2003<br>alopez : 5/19/2003<br>mcapotos : 10/17/2000<br>mcapotos : 10/16/2000<br>terry : 9/28/2000<br>terry : 3/10/1998<br>mark : 1/5/1998<br>alopez : 6/2/1997<br>mark : 9/27/1995<br>terry : 6/30/1995<br>supermim : 3/16/1992<br>carol : 10/9/1991<br>carol : 2/20/1991<br>carol : 7/11/1990
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 148041
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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KERATIN 6A, TYPE II; KRT6A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KERATIN, EPIDERMAL TYPE II, K6A; K6A<br />
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KB6
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KRT6A</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12q13.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:52,487,176-52,493,257 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q13.13
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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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Pachyonychia congenita 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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615726
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal 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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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Keratin 6A (K6A) is the dominant K6 isoform. Takahashi et al. (1995) screened human genomic and skin cDNA libraries with probes derived from the K6B gene (148042), and isolated clones containing the full-length gene and cDNA predicted to encode K6a. As many as 6 different human K6 protein isoforms that are highly related at the gene structure, nucleotide sequence, and predicted amino acid sequence levels were identified. Takahashi et al. (1995) proposed an evolutionary model in which the multiplicity of human K6 genes is explained by successive gene duplication events. They confirmed that K6A is clearly the dominant K6 isoform in skin tissue samples and cultured epithelial cell lines and that the various isoforms are differentially regulated within and between epithelial tissue types. </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 Structure</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>Tyner et al. (1985) provided information on the structure of a type II keratin gene. A recent duplication in the basic keratin gene family gave rise to 2 copies of the human K6 gene. One of the copies is expressed at very low levels and may be at a still unextinguished step on the way to becoming a traditional pseudogene. </p><p>Takahashi et al. (1995) determined that the KRT6A gene contains 9 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rosenberg et al. (1991) assigned the KRT6A gene to chromosome 12 by use of Southern blot analysis of somatic cell hybrids. By in situ hybridization of metaphase chromosomes, they demonstrated that the KRT6A gene is located in region 12q12-q14. </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>In affected members of a Slovenian family segregating pachyonychia congenita described as the Jadassohn-Lewandowsky type (PC3; 615726), Bowden et al. (1995) identified heterozygosity for a mutation in the KRT6A gene (148041.0001). </p><p>Terrinoni et al. (2001) identified 3 novel mutations (148041.0002-148041.0004) and 2 previously identified mutations (see, e.g., 148041.0001) in the KRT6A gene in patients with pachyonychia congenita. </p><p>Smith et al. (2005) identified keratin mutations in 30 probands from the International Pachyonychia Congenita Research Registry, 17 of whom had mutations in the KRT6A gene (see, e.g., 148041.0001 and 148041.0005-148041.0008). </p><p>In a 32-year-old Chinese woman with pachyonychia congenita, Du et al. (2012) identified heterozygosity for a splice site mutation in the KRT6A gene (148041.0009). Her 7-year-old daughter, who had only focal plantar hyperkeratosis with no nail or hand involvement, was also heterozygous for the mutation. </p><p>In a patient with sporadic PC3, Wilson et al. (2014) identified a heterozygous nonsense mutation in the KRT6A gene (E461X; 148041.0010). </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">
|
|
<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">
|
|
<p>Wong et al. (2000) found that K6-null mice have changes in the oral mucosa resembling those of pachyonychia congenita. They speculated on why the mice lacked obvious alterations in nail morphology, the conspicuous feature in pachyonychia congenita. </p><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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PACHYONYCHIA CONGENITA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT6A, 3-BP DEL, 516CAA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231214,
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|
|
|
|
|
|
|
ClinVar: RCV000015740, RCV000057012
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|
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|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wilson et al. (2014) cited this mutation as c.516_518delCAA (Asn172del). </p><p>In a Slovenian family, Bowden et al. (1995) observed pachyonychia congenita of the Jadassohn-Lewandowsky type (PC3; 615726) in the grandfather, father, and daughter. The father and daughter had classic changes with thickened nails, palmoplantar keratoderma, and leukokeratosis of the tongue. The grandfather had only minor nail changes and mild keratoderma (raising the possibility of somatic and germinal mosaicism). No mutation was found in KRT16 and KRT17 in which mutations had been found in other patients with pachyonychia congenita. They identified heterozygosity for a 3-bp deletion (AAC) in exon 1 of the K6A gene, which removed a highly conserved asparagine residue from position 8 (Asn8del) of the 1A helical domain. The mutation was present in heterozygous state. </p><p>Terrinoni et al. (2001) found this mutation, which they designated N171del (Asn171del), in 1 familial and 2 sporadic cases of PC. The analogous mutation in the KRT4 gene (123940.0001) was reported in 2 cases of white sponge nevus (Rugg et al., 1995). This mutation is consistent with DNA polymerase slippage during replication of 3 tandem CAA repeats present in exon 1 of several type II keratin genes, including KRT4 and KRT6A. </p><p>In 3 familial and 3 sporadic cases of pachyonychia congenita, Smith et al. (2005) identified heterozygosity for the Asn171del mutation in the KRT6A gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PACHYONYCHIA CONGENITA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT6A, PHE174VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28933087,
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|
|
|
|
|
gnomAD: rs28933087,
|
|
|
|
|
|
ClinVar: RCV000015741, RCV000057013
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic pachyonychia congenita (PC3; 615726), Terrinoni et al. (2001) identified a c.520T-G transversion in the KRT6A gene that resulted in a phe174-to-val (F174V) amino acid substitution. This mutation is F10V in the 1A domain of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PACHYONYCHIA CONGENITA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT6A, GLU472LYS
|
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|
|
|
<br />
|
|
|
|
SNP: rs60554162,
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|
|
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|
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ClinVar: RCV000015742, RCV000056998
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic PC (PC3; 615726), Terrinoni et al. (2001) identified a c.1414G-to-A transition in the KRT6A gene that resulted in a glu472-to-lys (E472K) amino acid substitution. This mutation is E117K in the 2B domain of the protein. </p>
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</span>
|
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</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PACHYONYCHIA CONGENITA 3</strong>
|
|
</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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|
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KRT6A, LEU469ARG
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|
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<br />
|
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|
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SNP: rs57052654,
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|
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ClinVar: RCV000015743, RCV000056997
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</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic PC (PC3; 615726), Terrinoni et al. (2001) reported a c.1406T-G transversion in the KRT6A gene that resulted in a leu469-to-arg (L469R) amino acid substitution. This mutation is L114R in the 2B domain of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PACHYONYCHIA CONGENITA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT6A, LEU469PRO
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs57052654,
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|
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|
|
|
|
|
ClinVar: RCV000056996, RCV000144075
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic pachyonychia congenita (PC3; 615726), Smith et al. (2005) identified heterozygosity for a c.1406T-C transition in the KRT6A gene, resulting in a leu469-to-pro (L469P) substitution in the highly conserved helix termination motif of the 2B domain. </p>
|
|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PACHYONYCHIA CONGENITA 3</strong>
|
|
</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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KRT6A, ASN171SER
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<br />
|
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|
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SNP: rs58556099,
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|
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ClinVar: RCV000057010, RCV000128820
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic pachyonychia congenita (PC3; 615726), Smith et al. (2005) identified heterozygosity for a c.512A-G transition in the KRT6A gene, resulting in an asn171-to-ser (N171S) substitution in the highly conserved helix initiation motif of the 1A domain. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PACHYONYCHIA CONGENITA 3</strong>
|
|
</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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|
|
KRT6A, ASN171LYS
|
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|
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<br />
|
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|
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SNP: rs59685571,
|
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|
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|
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ClinVar: RCV000057011, RCV000128821
|
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|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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<p>In a patient from a family with pachyonychia congenita (PC3; 615726), Smith et al. (2005) identified heterozygosity for a c.513C-A transversion in the KRT6A gene, resulting in an asn171-to-lys (N171K) substitution in the highly conserved helix initiation motif of the 1A domain. </p>
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<span class="mim-font">
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<strong>.0008 PACHYONYCHIA CONGENITA 3</strong>
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KRT6A, PHE174SER
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<br />
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SNP: rs61145796,
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gnomAD: rs61145796,
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ClinVar: RCV000057014, RCV000144078
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<p>In 2 patients with sporadic pachyonychia congenita (PC3; 615726), Smith et al. (2005) identified heterozygosity for a c.521T-C transition in the KRT6A gene, resulting in a phe174-to-ser (F174S) substitution in the highly conserved helix initiation motif of the 1A domain. </p>
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<span class="mim-font">
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<strong>.0009 PACHYONYCHIA CONGENITA 3</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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KRT6A, IVS8AS, A-C, -2
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SNP: rs113369052,
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ClinVar: RCV000144079
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<p>In a 32-year-old Chinese woman with pachyonychia congenita (PC3; 615726), Du et al. (2012) identified heterozygosity for an A-to-C transversion at position -2 in intron 8 of the KRT6A gene (IVS8-2A-C), resulting in an 11-bp deletion (c.1460_1470del) at the beginning of exon 9, due to activation of a downstream splice acceptor site. The deletion was predicted to cause a frameshift resulting in a premature termination codon (Ser487PhefsTer72). The proband had toenail thickening, plantar hyperkeratosis with fissuring, and mild focal palmar hyperkeratosis but no fingernail changes; she also exhibited oral leukokeratosis, chapped lips, and fissured tongue. Her 7-year-old daughter, who was also heterozygous for the splice site mutation, had focal plantar hyperkeratosis, fissured tongue, and gingivitis, but no nail or hand involvement. Both patients reported hyperhidrosis of the hands and feet. </p>
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<span class="mim-font">
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<strong>.0010 PACHYONYCHIA CONGENITA 3</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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KRT6A, GLU461TER
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<br />
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SNP: rs267607468,
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gnomAD: rs267607468,
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ClinVar: RCV001027734
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<span class="mim-text-font">
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<p>In a patient (family 21) with sporadic pachyonychia congenita-3 (PC3; 615726), Wilson et al. (2014) identified a heterozygous c.1381G-T transversion in the KRT6A gene, resulting in a glu461-to-stop (E461X) substitution at the start of the helix termination motif in the 2B domain and a protein lacking the helix termination motif and tail domain. </p>
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</span>
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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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Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J.
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<strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong>
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Nature Genet. 10: 363-365, 1995.
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[PubMed: 7545493]
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[Full Text: https://doi.org/10.1038/ng0795-363]
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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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Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N.
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<strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong>
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Europ. J. Derm. 22: 476-480, 2012.
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[PubMed: 22668561]
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[Full Text: https://doi.org/10.1684/ejd.2012.1773]
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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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Rugg, E. L., McLean, W. H. I., Allison, W. E., Lunny, D. P., Macleod, R. I., Felix, D. H., Lane, E. B., Munro, C. S.
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<strong>A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.</strong>
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Nature Genet. 11: 450-452, 1995.
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[PubMed: 7493030]
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[Full Text: https://doi.org/10.1038/ng1295-450]
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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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|
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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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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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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
|
|
<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
|
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J. Invest. Derm. 117: 1391-1396, 2001.
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[PubMed: 11886499]
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[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01565.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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Tyner, A., Eichman, M., Fuchs, E.
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<strong>The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes.</strong>
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Proc. Nat. Acad. Sci. 82: 4683-4687, 1985.
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[PubMed: 2410904]
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[Full Text: https://doi.org/10.1073/pnas.82.14.4683]
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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., Sprecher, E., Smith, F. J.
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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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<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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wong, P., Colucci-Guyon, E., Takahashi, K., Gu, C., Babinet, C., Coulombe, P. A.
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<strong>Introducing a null mutation in the mouse K6-alpha and K6-beta genes reveals their essential structural role in the oral mucosa.</strong>
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J. Cell Biol. 150: 921-928, 2000.
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[PubMed: 10953016]
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[Full Text: https://doi.org/10.1083/jcb.150.4.921]
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Kelly A. Przylepa - updated : 03/19/2020<br>Marla J. F. O'Neill - updated : 9/18/2014<br>Carol A. Bocchini - updated : 4/10/2014<br>Patricia A. Hartz - updated : 9/24/2008<br>Matthew B. Gross - updated : 11/12/2004<br>Gary A. Bellus - updated : 5/19/2003<br>Victor A. McKusick - updated : 9/28/2000
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</span>
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<span class="mim-text-font">
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Victor A. McKusick : 7/11/1990
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carol : 03/19/2020<br>carol : 02/26/2020<br>mgross : 11/11/2015<br>carol : 9/18/2014<br>carol : 4/10/2014<br>joanna : 4/2/2014<br>alopez : 9/8/2010<br>mgross : 9/24/2008<br>terry : 9/24/2008<br>carol : 8/28/2006<br>mgross : 11/12/2004<br>alopez : 5/19/2003<br>alopez : 5/19/2003<br>mcapotos : 10/17/2000<br>mcapotos : 10/16/2000<br>terry : 9/28/2000<br>terry : 3/10/1998<br>mark : 1/5/1998<br>alopez : 6/2/1997<br>mark : 9/27/1995<br>terry : 6/30/1995<br>supermim : 3/16/1992<br>carol : 10/9/1991<br>carol : 2/20/1991<br>carol : 7/11/1990
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</div>
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<div class="modal-footer">
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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