Collagen, type I, alpha 2 explained

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.^{[1] [2]}

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, Cardiac-valvular, and Arthrochlasia type 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.^[3]

See also

• Type-I collagen
• Collagen

Further reading

• Byers PH, Wallis GA, Willing MC . Osteogenesis imperfecta: translation of mutation to phenotype . J. Med. Genet. . 28 . 7 . 433–42 . 1991 . 1895312 . 10.1136/jmg.28.7.433 . 1016951 .
• Kuivaniemi H, Tromp G, Prockop DJ . Mutations in collagen genes: causes of rare and some common diseases in humans . FASEB J. . 5 . 7 . 2052–60 . 1991 . 2010058 . 10.1096/fasebj.5.7.2010058. free . 24461341 .
• Kuivaniemi H, Tromp G, Prockop DJ . Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels . Hum. Mutat. . 9 . 4 . 300–15 . 1997 . 9101290 . 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 . 6890740 . free .
• Rossert J, Terraz C, Dupont S . Regulation of type I collagen genes expression . Nephrol. Dial. Transplant. . 15 . 66–8 . 2001 . Suppl 6 . 11143996 . 10.1093/ndt/15.suppl_6.66. free .

External links

• GeneReviews/NCBI/NIH/UW entry on Osteogenesis Imperfecta

Notes and References

1. Retief E, Parker MI, Retief AE . Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1) . Hum Genet . 69 . 4 . 304–8 . May 1985 . 3857213 . 10.1007/BF00291646 . 30209998 .
2. Wenstrup RJ, Cohn DH, Cohen T, Byers PH . 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 Chem . 263 . 16 . 7734–40 . Jun 1988 . 10.1016/S0021-9258(18)68560-6 . 2897363 . free .
3. Web site: Entrez Gene: COL1A2 collagen, type I, alpha 2.