Function:
Muscle contraction.
Subunit:
Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLSLC2). Interacts with ECM29.
Subcellular Location:
Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
DISEASE:
Atrial septal defect 3 (ASD3) [MIM:614089]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sick sinus syndrome 3 (SSS3) [MIM:614090]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry (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).
Similarity:
Contains 1 IQ domain.
Contains 1 myosin head-like domain.
Database links:
Entrez Gene: 4624 Human
Entrez Gene: 4625 Human
Entrez Gene: 140781 Mouse
Entrez Gene: 17888 Mouse
Entrez Gene: 29556 Rat
Entrez Gene: 29557 Rat
Omim: 160710 Human
SwissProt: P12883 Human
SwissProt: P13533 Human
SwissProt: Q02566 Mouse
SwissProt: Q91Z83 Mouse
SwissProt: P02563 Rat
SwissProt: P02564 Rat
Unigene: 278432 Human
Unigene: 58003 Mouse
Unigene: 457983 Mouse
Unigene: 225886 Rat
Unigene: 54399 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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