COL5A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL5A2 wild-type allele is located in the vicinity of 2q32.2 and is approximately 193 kb in length. This allele, which encodes collagen alpha-2(V) chain protein, plays a role in the formation of fibrillar collagen and the extracellular matrix. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 2.

**Synonyms:** - Collagen Type V Alpha 2 Chain wt Allele - Collagen, Fetal Membrane, A Polypeptide Gene - Collagen, Type V, Alpha 2 Gene - Collagen, Type V, Alpha-2 Gene - EDSC - EDSCL2