Wednesday, June 5, 2013

COL5A1 gene ... Normal Function

Collagens form a family of proteins which strengthen & support many tissues in the body such as skin, ligaments, bones, tendons, muscles and the extracellular matrix between cells & tissues.

The COL5A1 gene produces a component of type V collagen pro-alpha1 (V) chain. 3 of these chains combine to make a molecule of type V pro-collagen. Alternatively, 2 of these chains can also combine with 1 pro-alpha2 (V) chain (produced by the COL5A2 gene) to form type V pro-collagen.

These triple-stranded rope-like pro-collagen molecules must be processed by enzymes outside the cell. Once these molecules are processed, they arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-links result in the formation of very strong, mature type V collagen fibers.

Type V collagen also plays a role in assembling other types of collagen into fibrils within many connective tissues and also essential for the formation of normal type I collagen fibrils.

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