MYLK2 encodes myosin light chain kinase 2, a calcium/calmodulin-dependent serine/threonine kinase that plays a crucial role in striated muscle contraction. The protein phosphorylates specific serine residues in the N-terminus of myosin light chains, regulating muscle filament sliding and global muscle contraction in both cardiac and skeletal muscle 1. MYLK2 functions through calcium/calmodulin-dependent signaling pathways and is essential for maintaining vascular smooth muscle cell contractility and blood pressure regulation 1. The gene has been associated with familial hypertrophic cardiomyopathy, with mutations identified in affected families showing distinct cardiac phenotypes 23. Specifically, truncating mutations like p.E380X have been linked to dilated cardiomyopathy, while missense mutations such as K324E are associated with ECG abnormalities including inverted T waves 23. Additionally, MYLK2 expression levels correlate with insulin sensitivity in skeletal muscle, suggesting a role in metabolic regulation 4. Recent genome-wide association studies have also identified MYLK2 as a potential risk locus for Parkinson's disease, though its specific role in neurodegeneration requires further investigation 5.