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COL1A1A gene on chromosome 17q21.33 that 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 connective tissues, and is abundant in bone, cornea, dermis and tendon.
COL1A1 mutations are linked to osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome (classical type), Caffey disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17q21.33 (the location for COL1A1) and 22q12.3-q13.1|22q13.1 (the location of the gene for platelet-derived growth factor beta), are associated with dermatofibrosarcoma protuberans, a skin tumour driven by unregulated expression of the growth factor.