KRT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KRT1 wild-type allele is located within 12q12-q13 and is approximately 6 kb in length. This allele, which encodes keratin, type II cytoskeletal 1 protein, plays a role in the regulation of epidermal development. Mutation of the gene is associated with bullous congenital ichthyosiform erythroderma, ichthyosis hystrix Curth-Macklin type, palmoplantar keratoderma non-epidermolytic, ichthyosis annular epidermolytic and palmoplantar keratoderma striate type 3.

**Synonyms:** - CK1 - EHK - EHK1 - EPPK - Epidermolytic Hyperkeratosis 1 Gene - K1 - KRT1A - Keratin 1 wt Allele - NEPPK