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Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.[5][6]

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.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164692 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029661 – Ensembl, May 2017
  3. ^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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 Genet. 69 (4): 304–8. doi:10.1007/BF00291646. PMID 3857213. S2CID 30209998.
  6. ^ 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 Chem. 263 (16): 7734–40. doi:10.1016/S0021-9258(18)68560-6. PMID 2897363.
  7. ^ “Entrez Gene: COL1A2 collagen, type I, alpha 2”.

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