ACTC1

1. ACTC1

The ACTC1 gene encodes the cardiac muscle alpha actin protein, which is a critical component of the contractile apparatus in cardiac muscle cells. This protein is essential for the proper functioning of the heart muscle, enabling it to contract and pump blood effectively throughout the body.

Structure

The ACTC1 gene is located on chromosome 15 in humans and spans approximately 6.2 kilobases. It consists of 6 exons and 5 introns. The protein product, cardiac alpha actin, is composed of 377 amino acids and has a molecular weight of approximately 42 kDa. The structure of cardiac alpha actin is highly conserved across species, reflecting its essential role in muscle contraction.

Function

Cardiac alpha actin is a major component of the thin filaments in the sarcomere, the basic contractile unit of muscle cells. It interacts with myosin, another protein, to facilitate muscle contraction through the sliding filament model. This interaction is regulated by the troponin-tropomyosin complex, which responds to changes in calcium ion concentration to initiate contraction.

Clinical Significance

Mutations in the ACTC1 gene have been associated with various forms of cardiomyopathy, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). These conditions can lead to heart failure and are characterized by abnormal heart muscle structure and function. Genetic testing for ACTC1 mutations can be an important tool in diagnosing these conditions and guiding treatment.

Research and Developments

Ongoing research is focused on understanding the precise mechanisms by which ACTC1 mutations lead to cardiomyopathy. Studies are also exploring potential therapeutic approaches, including gene therapy and small molecule drugs, to correct or mitigate the effects of these mutations.

Also see

• Cardiomyopathy
• Sarcomere
• Myosin
• Troponin
• Genetic testing