Automated description from the Alliance of Genome Resources
Exhibits extracellular matrix structural constituent. Involved in several processes, including cellular response to mechanical stimulus; protein transport; and skeletal system morphogenesis. Localizes to the collagen type I trimer and cytoplasm. Used to study Ehlers-Danlos syndrome; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 3; and osteogenesis imperfecta type 4. 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).