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.
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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(I) procollagen; COL1; 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 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