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Official Full Name
collagen, type I, alpha 2
This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2;chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis;and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type;VIIB, recessive Ehlers-Danlos syndrome Classical type, 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 the alpha1;chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three;transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.
COL1A2; collagen, type I, alpha 2; OI4, osteogenesis imperfecta type IV; collagen alpha-2(I) chain; alpha 2(I) collagen; alpha 2 collagen type I; collagen I; alpha 2 polypeptide; collagen of skin; tendon and bone; alpha 2 chain; type I procollagen; alpha; alpha 2(I)-collagen; alpha-2 type I collagen; collagen I, alpha-2 polypeptide; collagen of skin, tendon and bone, alpha-2 chain; OI4; alpha-2(1) collagen; collagen alpha 2(I) chain; zehn2357; alpha2(I); wu:fa98d05; wu:fa99g10; wu:fb04c08; wu:fb11d06; hm:zehn2357