COL5A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL5A1 wild-type allele is located in the vicinity of 9q34.3 and is approximately 203 kb in length. This allele, which encodes collagen alpha-1(V) chain protein, is involved in connective tissue development. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 1.

**Synonyms:** - Collagen Type V Alpha 1 Chain wt Allele - Collagen, Type V, Alpha 1 Gene - Collagen, Type V, Alpha-1 Gene - EDSC - EDSCL1