Aliases for MYH6 Gene
External Ids for MYH6 Gene
Previous GeneCards Identifiers for MYH6 Gene
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
GeneCards Summary for MYH6 Gene
MYH6 (Myosin Heavy Chain 6) is a Protein Coding gene. Diseases associated with MYH6 include Atrial Septal Defect 3 and Cardiomyopathy, Dilated, 1Ee. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ATPase activity. An important paralog of this gene is MYH7.
UniProtKB/Swiss-Prot Summary for MYH6 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.