COL1A2 Gene

The COL1A2 gene (COL1A2 stands for "collagen type I alpha 2 chain") is a protein-coding gene located on chromosome 7q21.3. Three transcripts have been identified for this gene resulting from the use of alternative polyadenylation signals.

The COL1A2 gene encodes the pro-alpha2 chain of type I collagen, whose triple helix consists of 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 tendons.

Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome classic type, idiopathic osteoporosis, and atypical Marfan syndrome.

However, symptoms associated with mutations in this gene are usually less severe than mutations in the gene encoding the alpha1 chain of type I collagen(COL1A1), reflecting the differential role of alpha2 chains in matrix integrity.

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