Aliases for MYL2 Gene
External Ids for MYL2 Gene
Previous GeneCards Identifiers for MYL2 Gene
Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
GeneCards Summary for MYL2 Gene
MYL2 (Myosin, Light Chain 2, Regulatory, Cardiac, Slow) is a Protein Coding gene. Diseases associated with MYL2 include cardiomyopathy, familial hypertrophic, 10 and myl2-related familial hypertrophic cardiomyopathy. Among its related pathways are RhoGDI Pathway and RhoGDI Pathway. GO annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYL12A.
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.