Gene Symbol | MYH7 |
Entrez Gene ID | 4625 |
Full Name | myosin heavy chain 7 |
Synonyms | CMD1S,CMH1,MPD1,MYHCB,SPMD,SPMM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, hypertrophic, 1, 192600 (3); Cardiomyopathy, dilated, 1S, 613426 (3); Myopathy, myosin storage, autosomal dominant, 608358 (3); Laing distal myopathy, 160500 (3); Scapuloperoneal syndrome, myopathic type, 181430 (3); Left ventricular noncompaction 5, 613426 (3); Myopathy, myosin storage, autosomal recessive, 255160 (3) |