Myosin Heavy Chain 6, Cardiac Muscle, Alpha (MYH6) ELISA Kit for Sheep

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 ~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. [provided by RefSeq, Mar 2010]

MYH6: Muscle contraction. Defects in MYH6 are the cause of atrial septal defect type 3 (ASD3). ASD3 is 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. Defects in MYH6 are the cause of familial hypertrophic cardiomyopathy type 14 (CMH14). It is 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. Defects in MYH6 are the cause of cardiomyopathy dilated type 1EE (CMD1EE). It is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Defects in MYH6 are the cause of susceptibility to sick sinus syndrome type 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. MYH6 variations are associated with susceptibility to sick sinus syndrome (PubMed:21378987). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers (PubMed:21378987).

Protein type: Motor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 14q12

Cellular Component: nucleoplasm; sarcomere; focal adhesion; myofibril; cytoplasm; stress fiber; muscle myosin complex; Z disc; myosin complex; cytosol

Molecular Function: microfilament motor activity; calmodulin binding; ATPase activity; actin-dependent ATPase activity; actin binding; protein kinase binding; ATP binding

Biological Process: adult heart development; striated muscle contraction; regulation of heart rate; metabolic process; in utero embryonic development; atrial cardiac muscle morphogenesis; Wnt receptor signaling pathway through beta-catenin; sarcomere organization; regulation of heart contraction; muscle filament sliding; visceral muscle development; BMP signaling pathway; regulation of ATPase activity; myofibril assembly; muscle contraction; cardiac muscle fiber development; regulation of blood pressure; ventricular cardiac muscle morphogenesis; regulation of the force of heart contraction

Disease: Cardiomyopathy, Familial Hypertrophic, 14; Sick Sinus Syndrome 3, Susceptibility To; Cardiomyopathy, Dilated, 1ee; Atrial Septal Defect 3; Cardiomyopathy, Familial Hypertrophic, 1