COL1A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL1A1 wild-type allele is located in the vicinity of 17q21.33 and is approximately 18 kb in length. This allele, which encodes collagen alpha-1 (I) chain protein, is involved in both the development and maintenance of tendon, ligaments and bones. Mutations in the gene are associated with both Ehlers-Danlos syndrome and osteogenesis imperfecta types. In cases of dermatofibrosarcoma protuberans the gene is involved in a translocation t(17;22)(q22;q13) with the PDGF gene.

**Synonyms:** - CAFYD - Collagen Type I Alpha 1 Chain wt Allele - Collagen of Skin, Tendon and Bone, Alpha-1 Chain Gene - Collagen, Type I, Alpha 1 Gene - Collagen, Type I, Alpha-1 Gene - EDSARTH1 - EDSC - OI1 - OI2 - OI3 - OI4