COL1A2(redirected from OTTHUMP00000192906)
COL1A2A gene on chromosome 7q21.3 that encodes the pro-alpha2 chain of type-I collagen, the triple-helix (two-alpha1, one-alpha2 chain) form of collagen found in most connective tissue and abundant in bone, cornea, dermis and tendon.
COL1A2 mutations occur in osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIB, autosomal recessive Ehlers-Danlos syndrome (classic type), idiopathic osteoporosis and atypical Marfan syndrome.
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