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Also known asEDSC, EDSCL1, FMDMF
COL5A1 (Collagen Type V Alpha 1 Chain) is a gene that codes for one of the two polypeptide chains that make up the collagen type V protein. Collagen type V is a minor component of the extracellular matrix of connective tissues, including bone, cartilage, and tendons. The exact function of collagen type V is not fully understood, but it is thought to play a role in regulating the assembly and structure of collagen type I and III fibrils.
The COL5A1 gene is located on chromosome 9 in humans and consists of 66 exons. Mutations or alterations in the COL5A1 gene have been linked to various connective tissue disorders, including Ehlers-Danlos syndrome (EDS), a group of genetic disorders that affect the production and structure of collagen.
Collagen type V is composed of two alpha 1 chains (encoded by COL5A1) and one alpha 2 chain (encoded by COL5A2). These chains combine to form a triple helical structure that is important for the assembly of collagen fibers in the extracellular matrix.
Studies have also suggested that collagen type V may play a role in other physiological processes, such as wound healing and cancer progression.
Overall, the COL5A1 gene plays a critical role in the synthesis and assembly of collagen type V, which is important for the structure and function of various connective tissues in the body. Its study has potential implications for understanding and treating various connective tissue disorders and conditions related to collagen production and function.