Gene MYL2
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Also known as
myosin light chain 2, regulatory cardiac slow, MLC-2v, ventricular myosin regulatory light chainOverview
MYL2 (Myosin Light Chain 2) encodes the regulatory light chain of ventricular/slow twitch cardiac myosin. This protein modulates cardiac muscle contraction by regulating the interaction between myosin heavy chain and actin filaments. Phosphorylation of MYL2 is essential for optimal cardiac contractile function and responds to calcium-calmodulin signaling.Mutations in MYL2 cause familial hypertrophic cardiomyopathy, characterized by abnormal thickening of the heart muscle. These mutations can lead to arrhythmias, heart failure, and sudden cardiac death. MYL2 mutations typically cause a milder form of HCM compared to mutations in myosin heavy chain genes, but still require careful cardiac monitoring.
Understanding your MYL2 genetic status provides insights into hereditary cardiomyopathy risk. This information is particularly important for individuals with family history of hypertrophic cardiomyopathy, enabling early cardiac surveillance and appropriate management to prevent complications.