Cofilin-2

Cofilin-2 is a protein that in humans is encoded by the CFL2 gene. It is a member of the ACD (actin-depolymerizing factor)/cofilin protein family. This family of proteins is responsible for enhancing the turnover rate of actin in cells.

Function

Cofilin-2 is an actin-binding protein that has a crucial role in regulating actin filament dynamics. It is involved in the process of actin depolymerization, which is essential for the cytoskeleton's structural plasticity. This protein is predominantly expressed in muscle tissue, where it plays a significant role in muscle contraction and mobility.

Structure

The structure of cofilin-2 is similar to that of other members of the ACD/cofilin family. It consists of a central five-stranded beta-sheet, surrounded by alpha-helices. The actin-binding site is located in a large cleft between the beta-sheet and the helices.

Clinical significance

Mutations in the CFL2 gene have been associated with various types of myopathy, including nemaline myopathy and congenital myopathy. These are rare genetic disorders that cause muscle weakness and decreased muscle tone.

Research

Research on cofilin-2 has been focused on understanding its role in muscle function and its involvement in myopathy. Studies have shown that cofilin-2 deficiency in mice leads to a severe form of nemaline myopathy, suggesting that this protein is essential for normal muscle function.

See also

• Cofilin
• Actin
• Myopathy
• Nemaline myopathy