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Type I collagen is the most abundant collagen of the human body which forms large, eosinophilic fibers known as collagen fibers. It is present in scar tissue, the end product when tissue heals by repair, as well as tendons, ligaments, the endomysium of myofibrils, the organic part of bone, the dermis, the dentin and organ capsules. Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is encoded by the COL1A1 gene. Collagen alpha-2(I) chain is encoded by the COL1A2 gene. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.
Target Name: | Collagen I |
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