Defects in KRT6B are a cause of pachyonychia congenita type 2 (PC2); 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. Belongs to the intermediate filament family. Note: This description may include information from UniProtKB.
Alt. Names/Synonyms: CK-6B; CK6B; cytokeratin 6B; Cytokeratin-6B; K2C6B; K6B; keratin 6B; keratin, epidermal, type II, K6B; Keratin, type II cytoskeletal 6B; Keratin-6B; keratin-like 1 (a type II keratin sequence); KRT6B; KRTL1; PC2; Type-II keratin Kb10