Aliases for MYH2 Gene
External Ids for MYH2 Gene
Previous HGNC Symbols for MYH2 Gene
Previous GeneCards Identifiers for MYH2 Gene
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
GeneCards Summary for MYH2 Gene
MYH2 (Myosin Heavy Chain 2) is a Protein Coding gene. Diseases associated with MYH2 include Myopathy, Proximal, With Ophthalmoplegia and Myopathy. Among its related pathways are Immune response CCR3 signaling in eosinophils and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of ribosome. An important paralog of this gene is MYH1.
UniProtKB/Swiss-Prot Summary for MYH2 Gene
Muscle contraction. Required for cytoskeleton organization (By similarity).
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.