Aliases for MYH6 Gene
External Ids 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 ~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, Mar 2010]
GeneCards Summary for MYH6 Gene
MYH6 (Myosin, Heavy Chain 6, Cardiac Muscle, Alpha) is a Protein Coding gene. Diseases associated with MYH6 include atrial septal defect 3 and sick sinus syndrome 3. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYH4.
UniProtKB/Swiss-Prot for MYH6 Gene
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.