心脏肌球蛋白轻链2重组兔单抗

MYL2

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Myosin is a hexamer of 2 heavy chains and 4 light chains.

Cytoplasm, myofibril, sarcomere, A band

Expressed in fetal and adult skeletal muscle.

N-terminus is methylated by METTL11A/NTM1.

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. Defects in MYL2 are the cause of cardiomyopathy familial 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.

Contains 3 EF-hand domains.

Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.