Automated description from the Alliance of Genome Resources (Release 4.0)
Enables SMAD binding activity. Acts upstream of or within several processes, including bone mineralization; extracellular matrix assembly; and protein heterotrimerization. Located in extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; embryo mesenchyme; and genitourinary system. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (collagen type I alpha 2 chain).