Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2gene.
This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.
^Retief E, Parker MI, Retief AE (May 1985). "Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)". Hum Genet69 (4): 304–8. doi:10.1007/BF00291646. PMID3857213.Cite uses deprecated parameters (help)
^Wenstrup RJ, Cohn DH, Cohen T, Byers PH (Jun 1988). "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype". J Biol Chem263 (16): 7734–40. PMID2897363.Cite uses deprecated parameters (help)