MYL3
Function
Regulatory light chain of myosin. Does not bind calcium.
Involvement in disease
Cardiomyopathy, familial hypertrophic, 8
CMH8
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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The N-terminus is blocked.
N-terminus is methylated by METTL11A/NTM1.
Alternative names
Myosin light chain 3, Cardiac myosin light chain 1, Ventricular myosin alkali light chain, Ventricular myosin light chain 1, Ventricular/slow twitch myosin alkali light chain, CMLC1, MLC1SB, VLCl, MLC-lV/sb, MYL3