MYOC

MYH6 is a gene that encodes the alpha heavy chain subunit of cardiac myosin, a protein that plays a crucial role in the contractile function of the heart muscle. This gene is located on the long arm of chromosome 14 at position 11.2. The protein product of MYH6 is predominantly expressed in the atrial tissue of the heart and is essential for normal cardiac function.

Structure

The MYH6 gene spans approximately 25 kilobases and consists of 40 exons. The protein encoded by MYH6 is a part of the myosin heavy chain family, which is characterized by a head, neck, and tail domain. The head domain contains the ATPase activity and actin-binding sites, which are critical for muscle contraction.

Function

MYH6 is primarily expressed in the atria of the heart, where it forms part of the thick filament of the sarcomere, the fundamental unit of muscle contraction. The protein interacts with actin filaments and, through ATP hydrolysis, generates the force necessary for muscle contraction. This process is vital for the pumping action of the heart, particularly in the atria.

Clinical Significance

Mutations in the MYH6 gene have been associated with various cardiac conditions, including atrial septal defects, dilated cardiomyopathy, and hypertrophic cardiomyopathy. These mutations can lead to impaired cardiac function and may result in heart failure or arrhythmias. Genetic testing for MYH6 mutations can be important in diagnosing these conditions and guiding treatment options.

Research and Studies

Recent studies have focused on the role of MYH6 in cardiac development and disease. Research has shown that MYH6 expression is regulated by various transcription factors and signaling pathways, which are crucial during heart development. Additionally, animal models have been used to study the effects of MYH6 mutations on cardiac function, providing insights into potential therapeutic targets.

Also see

• Cardiac muscle
• Myosin
• Hypertrophic cardiomyopathy
• Dilated cardiomyopathy
• Atrial septal defect