Myosin heavy chain 6 (cardiac muscle, alpha isoform) (MYH6)

Myosin heavy chain 6 (MYH6), also known as myosin heavy chain, cardiac muscle alpha isoform, is a major motor protein expressed predominantly in the cardiac atria of humans, and at lower levels in ventricular tissue. It encodes the alpha isoform of the cardiac myosin heavy chain, a component of type II myosin, which forms part of the thick filament within the sarcomere, the contractile unit of muscle[1][2][3]. This protein hydrolyzes ATP to generate mechanical force, essential for cardiac muscle contraction and normal pump function of the heart. MYH6 is crucial during heart development and is implicated in several genetic cardiac diseases: pathogenic variants are associated with familial dilated and hypertrophic cardiomyopathies, atrial septal defects, and conduction disorders such as sick sinus syndrome. While not currently a drug target for approved clinical therapies, its role in rare and familial congenital heart diseases makes it a significant gene for genetic testing, diagnosis, and experimental therapeutic approaches, such as gene therapy or allele-specific silencing[1][2][3].

Other names

alpha-MHCMYH6MYHCAMyHC-alphaMYHCSSS3CMH14CMD1EEASD3myHC-alphamyosin-6cardiac alpha myosin heavy-chainmyosin, heavy polypeptide 6, cardiac muscle, alphamyosin heavy chain, cardiac muscle alpha isoformmyosin heavy chain, hypertrophic 1

Inhibition or silencing of pathogenic MYH6 alleles (e.g., RNA interference in gene therapy preclinical models[2]); Modulation of cardiac muscle contractility (experimental, not approved)