Involvement in diseaseDefects 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.
Sequence similaritiesContains 3 EF-hand domains.
Post-translational modificationsN-terminus is methylated by METTL11A/NTM1.