Anti-COL1A1

COL1A1 (Collagen Type I Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL1A1 include Caffey Disease and Osteogenesis Imperfecta, Type I. Among its related pathways are Collagen chain trimerization and Transcription_Role of VDR in regulation of genes involved in osteoporosis. GO annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL2A1.This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor bet Protein function: Type I collagen is a member of group I collagen (fibrillar forming collagen). [The UniProt Consortium]