Keratin, type I cytoskeletal 9
Function
May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.
Involvement in disease
Palmoplantar keratoderma, epidermolytic, 1
EPPK1
A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK1 inheritance is autosomal dominant.
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 terminally differentiated epidermis of palms and soles.
Alternative names
Cytokeratin-9, Keratin-9, CK-9, K9, KRT9