Collagen I Antibody / COL1A1

Collagen type 1 alpha 1, also known as COL1A1, is a human gene that encodes the major component of type 1 collagen, the fibrillar collagen found in most connective tissues, including cartilage. This gene is mapped to 17q21.33. This gene encodes the pro-alpha1 chains of type 1 collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Collagen type 1 is fibril-forming and 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 VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis.