KRT6B Chromosome 12

Keratin 6B
13 variants 13 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000185479
Associated Conditions (2)
Inborn genetic diseases
Pachyonychia congenita 4
Key Variants
All Variants (13)
RSID Category Clinical Significance Conditions
RS137872925 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146988096 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150021015 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200055232 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201956073 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202222264 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750932643 Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 4, Pachyonychia congenita 4
RS764620689 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1131691901 Health Risk Likely pathogenic
RS1592169234 Health Risk Pathogenic Pachyonychia congenita 4, Pachyonychia congenita 4
RS267607472 Health Risk Pathogenic Pachyonychia congenita 4, Pachyonychia congenita 4
RS60627726 Health Risk Pathogenic Pachyonychia congenita 4, Pachyonychia congenita 4
RS267607473 Health Risk Pathogenic/Likely pathogenic Pachyonychia congenita 4, Pachyonychia congenita 4
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