Collagen alpha-2(I) chain is a
protein that in humans is encoded by the COL1A2gene.[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]
Collagen alpha-2(I) chain is a
protein that in humans is encoded by the COL1A2gene.[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]