MYL3 (slow)

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

Full Name

Myosin Light Chain 3

Function

Regulatory light chain of myosin. Does not bind calcium.

Biological Process

Cardiac muscle contraction Source: BHF-UCL
Positive regulation of ATP-dependent activity Source: BHF-UCL
Regulation of striated muscle contraction Source: BHF-UCL
Regulation of the force of heart contraction Source: BHF-UCL
Ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

Cellular Location

Cytoskeleton
muscle myosin complex
myosin II complex
Cytosol
Other locations
A band
I band
sarcomere

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.

PTM

The N-terminus is blocked.
N-terminus is methylated by METTL11A/NTM1.