Automated description from the Alliance of Genome Resources (Release 3.1.1)
Exhibits SMAD binding activity. Involved in several processes, including bone mineralization; extracellular matrix assembly; and protein heterotrimerization. Localizes to collagen type I trimer and extracellular space. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; heart and pericardium; and limb bud. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (collagen type I alpha 2 chain).