Entrez 1278 | Ensembl ENSG00000164692 | |
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Aliases COL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain External IDs OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2 Similar Type I collagen, Collagen, Protein |
Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.
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.
References
Collagen, type I, alpha 2 Wikipedia(Text) CC BY-SA