COL1A1 Proteins

Protein Information

The protein encoded by this gene is the pro-alpha1 chain 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.

Synonyms

alpha-1 type 1 collagen; alpha-1 type I collagen; alpha1(I) procollagen; COL1A; COL1A1; Col1a-1; Cola1; Cola-1; COLIA1; Collagen 1; collagen alpha 1 chain type I; Collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; Collagen I; collagen of skin, tendon and bone, alpha-1 chain; collagen type I alpha 1; collagen, type 1, alpha 1; collagen, type I, alpha 1; Collagen1A1; EDSC; Mov13; Mov-13; OI1; OI2; OI3; OI4; pro-alpha-1 collagen type 1; 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