Aliases for MYH8 Gene
External Ids for MYH8 Gene
Previous GeneCards Identifiers for MYH8 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 predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]
GeneCards Summary for MYH8 Gene
MYH8 (Myosin Heavy Chain 8) is a Protein Coding gene. Diseases associated with MYH8 include Carney Complex Variant and Trismus-Pseudocamptodactyly Syndrome. Among its related pathways are Immune response CCR3 signaling in eosinophils and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. GO annotations related to this gene include ATPase activity and actin filament binding. An important paralog of this gene is MYH2.
UniProtKB/Swiss-Prot for MYH8 Gene
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.