MYH6

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3.

Full Name

MYH6

Function

Muscle contraction.

Biological Process

Adult heart development Source: HGNC-UCL
ATP metabolic process Source: BHF-UCL
Atrial cardiac muscle tissue morphogenesis Source: HGNC-UCL
Cardiac muscle cell development Source: BHF-UCL
Cardiac muscle contraction Source: BHF-UCL
Cardiac muscle hypertrophy in response to stress Source: Ensembl
In utero embryonic development Source: BHF-UCL
Muscle contraction Source: HGNC-UCL
Muscle filament sliding Source: HGNC-UCL
Myofibril assembly Source: BHF-UCL
Regulation of ATP-dependent activity Source: BHF-UCL
Regulation of blood pressure Source: BHF-UCL
Regulation of heart contraction Source: BHF-UCL
Regulation of heart growth Source: Ensembl
Regulation of heart rate Source: HGNC-UCL
Regulation of the force of heart contraction Source: BHF-UCL
Sarcomere organization Source: BHF-UCL
Striated muscle contraction Source: BHF-UCL
Ventricular cardiac muscle tissue morphogenesis Source: HGNC-UCL
Visceral muscle development Source: BHF-UCL

Cellular Location

Other locations
myofibril
Note: Thick filaments of the myofibrils.

Involvement in disease

Atrial septal defect 3 (ASD3):
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
Cardiomyopathy, familial hypertrophic 14 (CMH14):
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.
Cardiomyopathy, dilated 1EE (CMD1EE):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Sick sinus syndrome 3 (SSS3):
The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors.