Type I collagen is a triple helix comprised of two alpha-1 chains and one alpha-2 chain. Type I collagen is a member of group I collagen (fibril-forming collagen) found in most connective tissues, and is abundant in bone, cornea, dermis and tendon. Mutations in the COL1A1 gene encoding the alpha-1 chain are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Mutations in the COL1A2 gene encoding the alpha-2 chain 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 COL1A1 gene, reflecting the different role of alpha-2 chains in matrix integrity.
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