aactinin2

Aactinin2 is a protein encoded by the ACTN2 gene. It is a member of the alpha-actinin protein family, which are actin-binding proteins that play a crucial role in the organization of the actin cytoskeleton. Alpha-actinins are known to function as cross-linking proteins, connecting actin filaments to each other and to other cellular structures.

In vertebrates, there are multiple alpha-actinin isoforms, with alpha-actinin-2 being one of the major subtypes. It is predominantly found in striated muscle tissues, where it is a key component of the Z-disk, the boundary structure of sarcomeres. In the Z-disk, alpha-actinin-2 helps anchor the ends of the thin actin filaments, contributing to the structural integrity and force transmission within muscle fibers. Its precise arrangement and interactions with other Z-disk proteins are essential for proper muscle contraction and function.

Mutations in the ACTN2 gene have been associated with various muscle disorders. These include certain forms of inherited cardiomyopathies, which affect the heart muscle, and skeletal myopathies, which impact the muscles responsible for movement. These diseases often arise from disruptions in the Z-disk structure and function caused by the altered alpha-actinin-2 protein. Research into aactinin2 continues to explore its detailed molecular interactions and its involvement in maintaining muscle health and disease pathogenesis.