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COL1A1 Telopeptide Antibodies

Type Icollagenis 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-formingcollagen)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. View more

Synonyms

alpha-1 type 1 collagen; Alpha-1 type I collagen; alpha1(I) procollagen; COL1A; collagen 1; collagen alpha 1 chain type I; Collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; collagen of skin, tendon and bone, alpha-1 chain; collagen, type 1, alpha 1; collagen, type I, alpha 1; pro-alpha-1 collagen type 1; procollagen type I, alpha 1; procollagen, type 1, alpha 1; procollagen, type I, alpha 1; Type I Collagen; type I proalpha 1; type I procollagen alpha 1 chain; type I-alpha 1 collagen

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