KRT6B

Involvement in disease

Pachyonychia congenita 4

PC4

An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

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

K6B, KRTL1, KRT6B, Cytokeratin-6B, Keratin-6B, Type-II keratin Kb10, CK-6B

Database links

swissprot:P04259 omim:148041 entrezGene:286887 omim:148042 omim:612315 swissprot:P02538 swissprot:P48668 entrezGene:3853 entrezGene:3854