Type I collagen, the fibrillar collagen found in most connective tissues, and the only component of the collagen found in cartilage. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene 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 this gene.
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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 (III) collagen; alpha1(I) procollagen; Collagen 1; Collagen 3; collagen alpha 1 chain type I; Collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; Collagen alpha-1(III) chain; 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, fetal; collagen, type I, alpha 1; collagen, type I, alpha 2; collagen, type III, alpha 1; Ehlers-Danlos syndrome type IV, autosomal dominant; minisatellite 10w detected by probe MMS10; osteogenesis imperfecta; pro-alpha-1 collagen type 1; procollagen, type I, alpha 1; procollagen, type I, alpha 2; procollagen, type III, alpha 1; type I proalpha 1; type I procollagen; type I procollagen alpha 1 chain
Gene Aliases: AA960264; AI325291; AW550625; Col1a-1; Col1a-2; COL1A1; COL1A2; Col3a-1; COL3A1; Cola-1; Cola-2; Cola1; Cola2; EDS4A; EDSC; mKIAA4231; MMS10-W; Mov-13; Mov13; Ms10w; OI1; OI2; OI3; OI4; oim