Aliases for MYH7 Gene
External Ids for MYH7 Gene
Previous HGNC Symbols for MYH7 Gene
Previous GeneCards Identifiers for MYH7 Gene
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]
GeneCards Summary for MYH7 Gene
MYH7 (Myosin Heavy Chain 7) is a Protein Coding gene. Diseases associated with MYH7 include Myopathy, Distal, 1 and Scapuloperoneal Myopathy, Myh7-Related. Among its related pathways are cGMP-PKG signaling pathway and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYH6.
UniProtKB/Swiss-Prot Summary for MYH7 Gene
Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.