Function
disease:Defects in KRT17 are a cause of pachyonychia congenita type 2 (PC2) [MIM:167210]; also known as pachyonychia congenita Jackson-Lawler type. PC2 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.,disease:Defects in KRT17 are a cause of steatocystoma multiplex (SM) [MIM:184500]. SM is a disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.,disease:KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.,function:May play a role in the
