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 myl2-related familial hypertrophic cardiomyopathy and cardiomyopathy, hypertrophic, 10. Among its related pathways are Regulation of actin cytoskeleton 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.
UniProtKB/Swiss-Prot for MYL2 Gene
Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (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.