Gene COL1A1

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COL1A1 (Collagen Type I Alpha 1 Chain) is a gene that codes for one of the two polypeptide chains that make up the collagen type I protein, which is a major component of the extracellular matrix of connective tissues such as bone, skin, and tendons. The collagen type I protein provides structural support and mechanical strength to these tissues.

The COL1A1 gene is located on chromosome 17 in humans and contains 52 exons. Mutations or alterations in the COL1A1 gene have been linked to various genetic disorders that affect the production or quality of collagen, including osteogenesis imperfecta (also known as brittle bone disease) and Ehlers-Danlos syndrome.

Collagen type I is synthesized as a precursor molecule called procollagen, which is then processed and secreted into the extracellular matrix. The procollagen molecule consists of two alpha 1 chains (encoded by COL1A1) and one alpha 2 chain (encoded by COL1A2). Mutations in either of these genes can lead to abnormal collagen production and result in connective tissue disorders.

Overall, the COL1A1 gene plays a critical role in the synthesis and assembly of collagen type I protein, which is essential for the structural integrity of various connective tissues in the body. Its study has potential implications for understanding and treating various genetic disorders and conditions related to collagen production and function.

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