COL1A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL1A2 wild-type allele is located in the vicinity of 7q22.1 and is approximately 37 kb in length. This allele, which encodes collagen alpha-2 (I) chain protein, plays a role in the structural integrity of tendons, ligaments and bones. Mutations in the gene are associated with atypical Marfan syndrome, Ehlers-Danlos syndrome types and osteogenesis imperfecta types.

**Synonyms:** - COL1A2 - Collagen Type I Alpha 2 Chain wt Allele - Collagen of Skin, Tendon and Bone, Alpha-2 Chain Gene - Collagen, Type I, Alpha 2 Gene - Collagen, Type I, Alpha-2 Gene - EDSARTH2 - EDSCV - OI4 - Osteogenesis Imperfecta Type IV Gene