MYH6 Gene – Cardiac Alpha-Myosin Heavy Chain: Function, Mutations & Disease

MYH6 encodes the alpha (α) myosin heavy chain, a major contractile protein of the cardiac sarcomere. It is predominantly expressed in the atria and, to a lesser extent, in the ventricles. Mutations in MYH6 are associated with hypertrophic cardiomyopathy (CMH1), dilated cardiomyopathy (CMD1EE), and atrial septal defect (ASD3). The protein interacts with actin and other sarcomeric components to generate cardiac contractile force.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Cardiac muscle contraction (KEGG: hsa04260)

• Hypertrophic cardiomyopathy (KEGG: hsa05410)

• Dilated cardiomyopathy (KEGG: hsa05414)

MYH6 encodes the alpha-myosin heavy chain (α-MHC), a 2239-amino-acid protein that forms the thick filament of the cardiac sarcomere. It contains an N-terminal globular head domain with ATPase and actin-binding sites, a neck region with light-chain binding sites, and a C-terminal coiled-coil rod domain responsible for filament assembly. α-MHC is the predominant myosin isoform in the adult human atrium and is expressed at lower levels in the ventricle. It is essential for cardiac contractility and is a key target in inherited cardiomyopathies.