Gene MYL3
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Also known as
myosin light chain 3, essential light chain cardiac, MLC-1v, ventricular myosin essential light chainOverview
MYL3 (Myosin Light Chain 3) encodes the essential light chain of ventricular myosin, a structural component of the cardiac muscle contractile apparatus. Unlike the regulatory light chain, the essential light chain stabilizes the myosin head structure and is necessary for proper myosin motor function. MYL3 is expressed in ventricular cardiac muscle and slow skeletal muscle fibers.Mutations in MYL3 cause familial hypertrophic cardiomyopathy, typically presenting with mild to moderate left ventricular hypertrophy. Some MYL3 mutations are also associated with dilated cardiomyopathy. The clinical presentation can vary from asymptomatic to severe cardiac dysfunction, making genetic screening important for family members of affected individuals.
Understanding your MYL3 genetic status provides insights into hereditary cardiomyopathy risk. This information is particularly important for cascade screening in families with known cardiomyopathy, enabling early detection and preventive management of cardiac complications.