基因名：
COL1A1
产品别名：
CAFYD； EDSARTH1； EDSC； OI1； OI2； OI3； OI4； COL1A1； collagen type I alpha 1 chain； collagen type I alpha 1 chain； collagen alpha-1(I) chain； alpha-1 type I collagen； alpha1(I) procollagen； collagen alpha 1 chain type I； collagen alpha-1(I) chain preproprotein； collagen of skin, tendon and bone, alpha-1 chain； collagen, type I, alpha 1； pro-alpha-1 collagen type 1； type I proalpha 1； type I procollagen alpha 1 chain； 1型前胶原氨基末端前肽/I型前胶原氨基末端前肽； I型胶原； I型胶原蛋白； I型胶原蛋白/胶原蛋白1/1型胶原蛋白/I型胶原； I型胶原蛋白/胶原蛋白1/1型胶原蛋白/I型胶原a1； Ⅰ型胶原α1(COL1a1)； Ⅰ型胶原α1(COL1a1)真核蛋白；
背景信息：
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. [provided by R. Dalgleish, Feb 2008].
