OI4 antibody, Col1a-1 antibody, Cola-1 antibody, Cola1 antibody, Mov-13 antibody, Mov13 antibody, COLIA1 antibody, col1a1 antibody, MGC52532 antibody, COL1A1 antibody, COL1A2 antibody, alpha1(I) antibody, cb21 antibody, sb:cb21 antibody, sb:cb384 antibody, wu:fa99c12 antibody, wu:fb02c06 antibody, alpha3(I) antibody, col1a3 antibody, hm:zeh0348 antibody, wu:fa95h05 antibody, wu:fd02a10 antibody, wu:fj59a10 antibody, collagen type I alpha 1 chain antibody, collagen, type I, alpha 1 antibody, collagen, type I, alpha 1 S homeolog antibody, collagen alpha-1(I) chain antibody, collagen type I alpha 2 chain antibody, collagen, type I, alpha 1a antibody, collagen 1a1 antibody, collagen, type I, alpha 1b antibody, COL1A1 antibody, Col1a1 antibody, col1a1.S antibody, LOC397571 antibody, COL1A2 antibody, col1a1a antibody, col1a1 antibody, col1a1b antibody
Background
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 beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.,COL1A1,EDSC,OI1,OI2,OI3,OI4,COL1A1