Collagen-1 (also known as collagen alpha, COL1A1, and alpha-1 type I collagen) is the largest component of fibrillar collagen found in cartilage and connective tissues, and synthesizes by fibroblasts, osteoblasts, and odontoblasts. Trimers are formed by combing two alpha one chains and one alpha 2 chain. Mutations of the gene are found in Ehlers-Danlos syndrome, as well as osteogenesis imperfecta. Over 50 mutations have been found in these diseases, including deletions, insertions, splice variants, and substitutions.
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