KRT6C

Involvement in disease

Palmoplantar keratoderma, non-epidermolytic, focal or diffuse

PPKNEFD

A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the intermediate filament family.

Tissue Specificity

Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

Alternative names

KRT6E, KRT6C, Cytokeratin-6C, Cytokeratin-6E, Keratin K6h, Keratin-6C, Type-II keratin Kb12, CK-6C, CK-6E, K6C

Database links

swissprot:P48668 swissprot:P19013 swissprot:P04259 swissprot:P02538 entrezGene:3852 omim:612315 omim:148042 omim:148041 omim:148040 omim:123940 swissprot:P13647 swissprot:Q01546 swissprot:Q7Z794 entrezGene:3851 entrezGene:3853 entrezGene:3854 entrezGene:3856 entrezGene:3858 entrezGene:3860 entrezGene:3875 entrezGene:51350 entrezGene:286887 entrezGene:374454