127812843ENSG00000164692ENSMUSG00000029661P08123Q01149NM_000089NM_007743NP_000080NP_031769Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.
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] This article on a gene on human chromosome 7 is a stub.