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MYH7 Muscle contraction. Defects in MYH7 are the cause of familial hypertrophic cardiomyopathy type 1 (CMH1). Familial hypertrophic cardiomyopathy 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 MYH7 are the cause of myopathy myosin storage (MYOMS). In this disorder, muscle biopsy shows type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain are present in the majority of type 1 fibers, but not in type 2 fibers. Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM); also known as scapuloperoneal syndrome myopathic type. SPMM is a progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S). Dilated cardiomyopathy 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 MYH7 are the cause of myopathy distal type 1 (MPD1). MPD1 is 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: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Motor
Chromosomal Location of Human Ortholog: 14q11.2
Cellular Component: muscle myosin complex; myofibril; myosin complex; sarcomere; stress fiber; Z disc
Molecular Function: actin binding; actin-dependent ATPase activity; ATP binding; ATPase activity; calmodulin binding; microfilament motor activity; protein binding
Biological Process: adult heart development; ATP metabolic process; cardiac muscle contraction; cardiac muscle hypertrophy in response to stress; muscle contraction; muscle filament sliding; regulation of heart rate; regulation of slow-twitch skeletal muscle fiber contraction; regulation of the force of heart contraction; regulation of the force of skeletal muscle contraction; skeletal muscle contraction; striated muscle contraction; transition between fast and slow fiber; ventricular cardiac muscle tissue morphogenesis
Disease: Cardiomyopathy, Dilated, 1s; Cardiomyopathy, Familial Hypertrophic, 1; Myopathy, Congenital, With Fiber-type Disproportion; Myopathy, Distal, 1; Myopathy, Myosin Storage; Myopathy, Myosin Storage, Autosomal Recessive; Scapuloperoneal Myopathy, Myh7-related
Reference #:  P12883 (UniProtKB)
Alt. Names/Synonyms: beta-myosin heavy chain; CMD1S; CMH1; DKFZp451F047; MGC138376; MGC138378; MPD1; MYH7; MyHC-beta; MyHC-slow; MYHCB; myopathy, distal 1; myosin heavy chain (AA 1-96); Myosin heavy chain 7; Myosin heavy chain slow isoform; Myosin heavy chain, cardiac muscle beta isoform; myosin, heavy chain 7, cardiac muscle, beta; myosin, heavy polypeptide 7, cardiac muscle, beta; Myosin-7; rhabdomyosarcoma antigen MU-RMS-40.7A; SPMD; SPMM
Gene Symbols: MYH7
Molecular weight: 223,097 Da
Basal Isoelectric point: 5.63  Predict pI for various phosphorylation states
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