Collagen I is a Type I collagen with a triple helix structure comprised of two alpha-1 chains and one alpha-2 chain. Collagen I is a member of group I collagen (fibril-forming collagen) found in most connective tissues, and is abundant in bone, cornea, dermis and tendon. Mutations in the COL1A2 gene encoding the alpha-2 chain are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in the COL1A2 gene which codes for the alpha-2 chain, however, tend to be less severe than mutations in the COL1A1 gene, reflecting the different role of alpha-2 chains in matrix integrity. Reciprocal translocations between chromosomes 17 and 22, where Collagen Type 1 genes and the gene for platelet derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: alpha 2 type I procollagen; alpha 2(I) procollagen; alpha 2(I)-collagen; alpha-1 type 1 collagen; Alpha-1 type I collagen; Alpha-2 type I collagen; alpha1 chain of type I collagen; alpha1(I) procollagen; alpha2 chain of type I collagen; COL1; COL1A1; COL1A1; matrix protein; collagen alpha 1 chain type I; Collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; Collagen alpha-2(I) chain; collagen COL1A2; collagen I, alpha-2 polypeptide; collagen of skin, tendon and bone, alpha-1 chain; collagen of skin, tendon and bone, alpha-2 chain; collagen type I alpha 1; collagen, type 1, alpha 1; collagen, type I, alpha 1; collagen, type I, alpha 2; osteogenesis imperfecta; pro-alpha-1 collagen type 1; procollagen type I, alpha 1; procollagen, type 1, alpha 1; procollagen, type I, alpha 1; procollagen, type I, alpha 2; Type I Collagen; type I proalpha 1; type I procollagen; type I procollagen alpha 1 chain; type I-alpha 1 collagen
Gene Aliases: AA960264; AI325291; Col1a-1; Col1a-2; COL1A1; COL1A2; Cola-1; Cola-2; Cola1; Cola2; COLIA1; EDSC; Mov-13; Mov13; OI1; OI2; OI3; OI4; oim
Molecular Function: extracellular matrix structural protein