MYBPC3

MYBPC3 encodes myosin-binding protein C, cardiac isoform (cMyBP-C), a key sarcomeric protein with aliases including CMBPC and MYBPC. It localizes to cardiac muscle thick filaments, interacting with myosin heavy chains and actin to stabilize filament structure and modulate contractile function via cross-bridge cycling regulation.
Pathogenic MYBPC3 mutations are a leading cause of autosomal dominant hypertrophic cardiomyopathy (HCM). Dysregulation of cMyBP-C disrupts calcium-dependent contractility pathways, impairing cardiac function. Standard therapies include beta-blockers, while targeted agents like mavacamten—a myosin ATPase inhibitor—have shown efficacy in reducing left ventricular outflow tract obstruction in HCM patients with MYBPC3 mutations.