Description: Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. RefSeq Summary (NM_000257): Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr14:23,881,947-23,904,870 Size: 22,924 Total Exon Count: 40 Strand: - Coding Region Position: hg19 chr14:23,882,063-23,902,941 Size: 20,879 Coding Exon Count: 38
ID:MYH7_HUMAN DESCRIPTION: RecName: Full=Myosin-7; AltName: Full=Myosin heavy chain 7; AltName: Full=Myosin heavy chain slow isoform; Short=MyHC-slow; AltName: Full=Myosin heavy chain, cardiac muscle beta isoform; Short=MyHC-beta; 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 (MLC-2). 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). DOMAIN: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. DOMAIN: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). DISEASE: Defects in MYH7 are the cause of familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]. 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. DISEASE: Defects in MYH7 are the cause of myopathy myosin storage (MYOMS) [MIM:608358]. 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. DISEASE: Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]; 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. DISEASE: Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]. 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. DISEASE: Defects in MYH7 are the cause of myopathy distal type 1 (MPD1) [MIM:160500]. 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. MISCELLANEOUS: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase. SIMILARITY: Contains 1 IQ domain. SIMILARITY: Contains 1 myosin head-like domain. CAUTION: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7 (MYO7). WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH7";
cardiomyopathy Villard, E. et al. 2005, Mutation screening in dilated cardiomyopathy:prominent role of the beta myosin heavy chain gene., European heart journal. 2005 Apr;26(8):794-803.
[PubMed 15769782]
We have identified seven mutations in MYH7, one in TNNT2, and none in PLN or in the VCL cardio-specific exon. MYH7 appears as the most frequently mutated gene in our FDCM population (approximately 10%), and mutation carriers present with delayed onset, in contrast to TNNT2.
pronounced septal hypertrophy Havndrup O et al. 2000, A novel missense mutation Leu390Val in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy., Scandinavian cardiovascular journal. 2000 Dec;34(6):558-63.
[PubMed 11214007]
We report a novel missense mutation associated with FHC caused by a double nucleotide transversion. The penetrance of the mutation was not complete, but in clinically affected patients the mutation gives rise to an echocardiographic phenotype, predominantly characterized by pronounced septal hypertrophy.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P12883
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002026 regulation of the force of heart contraction GO:0002027 regulation of heart rate GO:0003009 skeletal muscle contraction GO:0006936 muscle contraction GO:0006941 striated muscle contraction GO:0007018 microtubule-based movement GO:0007512 adult heart development GO:0014728 regulation of the force of skeletal muscle contraction GO:0014883 transition between fast and slow fiber GO:0014898 cardiac muscle hypertrophy in response to stress GO:0030049 muscle filament sliding GO:0031449 regulation of slow-twitch skeletal muscle fiber contraction GO:0046034 ATP metabolic process GO:0055010 ventricular cardiac muscle tissue morphogenesis GO:0060048 cardiac muscle contraction
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
