MYH7

Chr 14

myosin heavy chain 7

Also known as: CMD1S, CMH1, CMYO7A, CMYO7B, CMYP7A, CMYP7B, MPD1, MYHCB

NCBI Gene: 4625 ENSG00000092054 UniProt: P12883

The protein encodes the beta heavy chain subunit of cardiac myosin, which determines contractile velocity in cardiac muscle and is expressed in ventricular myocardium and slow-twitch skeletal muscle fibers. Mutations cause familial hypertrophic cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, myosin storage myopathy, and Laing distal myopathy through dominant-negative mechanisms. Inheritance is primarily autosomal dominant, though autosomal recessive and digenic forms occur.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022]

ResearchGenerating clinical summary…