MYL2 Rabbit Polyclonal Antibody

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], disease:Defects in MYL2 are the cause of cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death., disease:Defects in MYL2 are the cause of cardiomyopathy hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]. MVC2 is a very rare variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening., miscellaneous:This chain binds calcium., similarity:Contains 3 EF-hand domains., subunit:Myosin is an hexamer of 2 heavy chains and 4 light chains.

Cardiac muscle contraction; Focal adhesion; Tight junction; Leukocyte transendothelial migration; Regulates Actin and Cytoskeleton; Hypertrophic cardiomyopathy (HCM) ; Dilated cardiomyopathy