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Type I collagen, the fibrillar collagen found in most connective tissues, and the only component of the collagen found in cartilage. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, 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.
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Protein Aliases: Collagen alpha-1(V) chain; collagen, type V, alpha 1
Gene Aliases: COL5A1; EDSC
UniProt ID: (Human) P20908
Entrez Gene ID: (Human) 1289
Molecular Function: extracellular matrix structural protein