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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.
AA960264; AI325291; alpha 2 type I procollagen; alpha 2(I) procollagen; alpha 2(I)-collagen; alpha1 (III) collagen; alpha1 chain of type I collagen; alpha-1 type 1 collagen; alpha-1 type I collagen; alpha1(I) procollagen; alpha2 chain of type I collagen; Alpha-2 type I collagen; alpha2(I) collagen; AW550625; Col1a1; Col1a-1; COL1A1; matrix protein; COL1A2; Col1a-2; COL1A2 gene exons 8 through 12; COL3A1; Col3a-1; Cola1; Cola-1; Cola2; Cola-2; Collagen 1; collagen 1 alpha 2 chain; Collagen 3; collagen alpha 1 chain type I; collagen alpha 1 type III; 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 type I alpha 1; collagen type I alpha 1 chain; collagen type I alpha 2 chain; collagen type III alpha 1 chain; collagen, fetal; collagen, type I, alpha 1; collagen, type I, alpha 2; collagen, type III, alpha 1; collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant); collagen, type III, alpha 1 chain, fibril forming; EDS4A; EDSC; Ehlers-Danlos syndrome type IV, autosomal dominant; minisatellite 10w detected by probe MMS10; mKIAA4231; MMS10-W; Mov13; Mov-13; Ms10w; OI1; OI2; OI3; OI4; oim; osteogenesis imperfecta; PIIINP; pro-alpha 2(I); pro-alpha-1 collagen type 1; procollagen, type I, alpha 1; procollagen, type I, alpha 2; procollagen, type III, alpha 1; similar to pro alpha 1(I) collagen; type I collagen alpha 1 chain; type I collagen alpha1; type I collagen alpha-2 chain; type I collagen pre-pro-alpha1(I) chain; type I proalpha 1; type I procollagen; type I procollagen alpha 1 chain; type I procollagen pro-alpha 2 chain; type III collagen
100 µL
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