ACTC1

Description

The ACTC1 gene, located on chromosome 15, provides instructions for making alpha-cardiac actin, a protein essential for muscle contraction. This protein forms the thin filaments in the sarcomeres, the basic contractile units of muscle cells. Alpha-cardiac actin interacts with other proteins, including myosin, to generate the force required for muscle contraction. It plays a crucial role in maintaining the structure and function of the heart and skeletal muscles. Mutations in the ACTC1 gene can lead to a variety of genetic disorders that affect muscle function, including cardiomyopathies and skeletal myopathies.

Associated Diseases

• Hypertrophic Cardiomyopathy (HCM)
• Dilated Cardiomyopathy (DCM)
• Restrictive Cardiomyopathy
• Skeletal Myopathies
• Nemaline Myopathy
• Myotonic Dystrophy
• Congenital Myopathy

Did you know?

Mutations in the ACTC1 gene have been linked to an increased risk of sudden cardiac death, especially in young athletes.