MYH7

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 early-onset distal myopathy. [provided by RefSeq, Jul 2008]

myosin heavy chain 7

Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.

Adult heart development Source: HGNC-UCL
ATP metabolic process Source: BHF-UCL
Cardiac muscle contraction Source: BHF-UCL
Cardiac muscle hypertrophy in response to stress Source: Ensembl
Muscle contraction Source: HGNC-UCL
Muscle filament sliding Source: HGNC-UCL
Regulation of heart rate Source: HGNC-UCL
Regulation of slow-twitch skeletal muscle fiber contraction Source: BHF-UCL
Regulation of the force of heart contraction Source: BHF-UCL
Regulation of the force of skeletal muscle contraction Source: BHF-UCL
Skeletal muscle contraction Source: BHF-UCL
Striated muscle contraction Source: BHF-UCL
Transition between fast and slow fiber Source: Ensembl
Ventricular cardiac muscle tissue morphogenesis Source: HGNC-UCL

Other locations
myofibril
sarcomere
Note: Thick filaments of the myofibrils.

Cardiomyopathy, familial hypertrophic 1 (CMH1):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Myopathy, myosin storage, autosomal dominant (MSMA):
A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers.
Scapuloperoneal myopathy MYH7-related (SPMM):
Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.
Cardiomyopathy, dilated 1S (CMD1S):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Myopathy, distal, 1 (MPD1):
A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.
Myopathy, myosin storage, autosomal recessive (MSMB):
An autosomal recessive form of myosin storage myopathy, a muscle disease characterized by subsarcolemmal accumulation of hyalinized bodies in type 1 muscle fibers. MSMB clinical features include muscle weakness, type II respiratory failure and cardiac failure, due to hypertrophic cardiomyopathy.
Left ventricular non-compaction 5 (LVNC5):
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition.