COL5

COL5‏‎ is a gene that encodes the alpha chain of type V collagen. Type V collagen is a fibrillar collagen that is widely distributed in various human tissues. It plays a crucial role in the regulation of collagen fibrillogenesis, which is the process of forming collagen fibrils, the main structural component of connective tissues.

Structure

The COL5‏‎ gene is located on the long (q) arm of chromosome 9 at position 34.3. It spans approximately 75 kilobases and consists of 66 exons. The encoded protein, type V collagen, is a heterotrimer composed of two alpha1(V) chains and one alpha2(V) chain. This protein is secreted into the extracellular matrix, where it assembles into fibrils with type I collagen.

Function

Type V collagen, encoded by the COL5‏‎ gene, is involved in the formation of collagen fibrils. It is thought to regulate the diameter of these fibrils and to play a role in fibril assembly. This protein is also involved in cell adhesion, a process that allows cells to interact and attach to neighbouring cells or the extracellular matrix.

Clinical significance

Mutations in the COL5‏‎ gene have been associated with several connective tissue disorders, including Ehlers-Danlos syndrome, a group of disorders affecting the skin, joints, and blood vessels. These mutations often result in a decrease in the amount of type V collagen, which can disrupt the structure and function of connective tissues throughout the body.

See also

• Collagen
• Ehlers-Danlos syndrome
• Connective tissue