Type I collagen alpha-1 chain (COL1A1)

Type I collagen alpha-1 chain, encoded by the COL1A1 gene, is the principal protein subunit of type I collagen, the most abundant collagen in the human body and a major component of bone, skin, tendon, and other connective tissues[1][3][4][5]. The protein forms a triple-helical structure by assembling with another alpha-1 chain and one alpha-2 chain (COL1A2) to build fibrillar collagen networks that provide strength, rigidity, and elasticity to tissues[1][4][5]. Mutations in COL1A1 have been linked to a range of connective tissue disorders such as osteogenesis imperfecta, several forms of Ehlers-Danlos syndrome, and predispositions to osteoporosis and disc disease[1][3]. The intact protein is essential for normal skeletal development and connective tissue integrity, while its dysfunction results in tissue fragility and disease.

Other names

Collagen type I alpha-1 chainAlpha-1 type I collagenPro-alpha1(I) collagen chainCOL1A1

Indirect: Inhibition of bone resorption/matrix turnover (e.g., bisphosphonates decrease osteoclast activity reducing fracture risk in osteogenesis imperfecta) Indirect: Promotion of bone formation (e.g., teriparatide stimulates osteoblasts) Potential experimental: Reduction of fibrotic collagen synthesis (anti-fibrotic drugs)