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.
Tissue Specificity:
Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).
DISEASE:
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: 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.
Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. Note=The disease is caused by mutations affecting the gene represented in this entry.
Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: 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.
Myopathy, distal, 1 (MPD1) [MIM:160500]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 1 IQ domain.
Contains 1 myosin head-like domain.
Database links:
Entrez Gene: 4625 Human
Entrez Gene: 140781 Mouse
Entrez Gene: 29557 Rat
Omim: 160760 Human
SwissProt: P12883 Human
SwissProt: Q91Z83 Mouse
SwissProt: P02564 Rat
Unigene: 719946 Human
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.
|
|
