Automated description from the Alliance of Genome Resources (Release 3.1.1)
Exhibits extracellular matrix structural constituent and identical protein binding activity. Involved in several processes, including cellular response to mechanical stimulus; face morphogenesis; and skeletal system morphogenesis. Localizes to collagen type I trimer and cytoplasm. Is expressed in several structures, including alimentary system; embryo mesenchyme; eye; heart and pericardium; and skeleton. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta (multiple). Human ortholog(s) of this gene implicated in several diseases, including beta thalassemia; bone disease (multiple); cutaneous leishmaniasis; dermatofibrosarcoma protuberans; and tooth disease (multiple). Orthologous to human COL1A1 (collagen type I alpha 1 chain).