COL7A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL7A1 wild-type allele is located in the vicinity of 3p21.31 and is approximately 31 kb in length. This allele, which encodes collagen alpha-1(VII) chain protein, plays a role in interactions between squamous epithelia and the basement membrane. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa.

**Synonyms:** - Collagen Type VII Alpha 1 Chain wt Allele - Collagen, Type VII, Alpha 1 Gene - EBD1 - EBDCT - EBR1 - NDNC8