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]
Alternative Names
alpha 1 (I) chain propeptide alpha-1 collagen type 1 alpha-1 collagen type I alpha-1 type 1 collagen alpha-1 type I collagen alpha1(I) procollagen COL1A COL1A1 Collagen 1 collagen alpha 1 chain type I collagen alpha-1(I) chain preproprotein collagen Col1-ColIII-1 collagen Col1-ColIII-2 Collagen I collagen of skin tendon and bone alpha-1 chain collagen type 1 alpha 1 collagen type I alpha 1 Collagen1A1 pro-alpha-1 collagen type 1 pro-alpha-1 type I collagen procollagen type I alpha 1 procollagen type 1 alpha 1 procollagen type I alpha 1 Type I Collagen type I proalpha 1 type I procollagen alpha 1 chain type I-alpha 1 collagen