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

Database links

• entrezGene:4634
• omim:160790
• swissprot:P08590

Target type

Proteins

Molecular weight

21932Da