KRT5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KRT5 wild-type allele is located in the vicinity of 12q13.13 and is approximately 6 kb in length. This allele, which encodes keratin, type II cytoskeletal 5 protein, plays a role in the formation of the epidermis. Mutation of the gene is associated with Dowling-Degos disease and several subtypes of epidermolysis bullosa simplex.

**Synonyms:** - CK5 - DDD - DDD1 - EBS2 - Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types Gene - K5 - KRT5A - Keratin 5 (Epidermolysis Bullosa Simplex, Dowling-Meara/Kobner/Weber-Cockayne Types) Gene - Keratin 5 wt Allele - Keratin 5, Type II Gene