KRT6A

Function

Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.

Involvement in disease

Pachyonychia congenita 3

PC3

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

Expressed in the corneal epithelium (at protein level).

Alternative names

K6A, KRT6D, KRT6A, Cytokeratin-6A, Cytokeratin-6D, Keratin-6A, Type-II keratin Kb6, CK-6A, CK-6D

Database links

swissprot:P02538 entrezGene:3854 entrezGene:286887 entrezGene:112802 omim:148040 omim:148041 omim:148042 omim:148070 omim:612315 swissprot:P05783 swissprot:P04259 swissprot:P13647 swissprot:P48666 swissprot:P48668 swissprot:Q3SY84 swissprot:Q9C075 entrezGene:3852 entrezGene:3853 entrezGene:3875