Collagen type I-alpha 1
Collagen type I-alpha 1 gene is mapped on chromosome 17q21.33 containing 51 exons with a molecular mass of 120kD comprises of two alpha 1 chains and one alpha 2 chain. It functions on the degree of hydroxylation ofproline and lysine residues for cross-linking and glycosylation.
Collagen type I-alpha 1 gene mutation is implicated in some disease like osteogenesis imperfecta type I-IV a disorder typified by the reduced production of pro-alpha1 chains that caused cells to make only half of the normal amount of type 1 collagen. It also associated in Caffey disease an infantile cortical hypertosis that usually occurs at 5 months old characterized by swelling of soft tissues, pain and excessive bone formation.
Gene name: COL1A1
Protein name: Collagen alpha-1(I) chain