功能Regulatory light chain of myosin. Does not bind calcium.
疾病相关Defects in MYL3 are the cause of cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]. 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. CMH8 inheritance can be autosomal dominant or recessive. Defects in MYL3 are the cause of cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]. MVC1 is a very rare variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.
序列相似性Contains 3 EF-hand domains.
翻译后修饰The N-terminus is blocked. N-terminus is methylated by METTL11A/NTM1.