Automated description from the Alliance of Genome Resources (Release 9.0.0)
Enables identical protein binding activity. An extracellular matrix structural constituent. Involved in cellular response to mechanical stimulus and osteoblast differentiation. Acts upstream of or within several processes, including face morphogenesis; intramembranous ossification; and skeletal system morphogenesis. Located in cytoplasm and extracellular matrix. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart and pericardium; limb; and skeleton. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta (multiple). Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; bone disease (multiple); cutaneous leishmaniasis; dentinogenesis imperfecta; and dermatofibrosarcoma protuberans. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
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