MYBPC3

About MYBPC3

MYBPC3 on chromosome 11p11.2 encodes cardiac myosin binding protein C, a component of the sarcomere, the contractile unit of heart muscle, where it binds myosin and titin and helps regulate the strength and timing of contraction. Together with MYH7, it is one of the two genes most frequently implicated in hypertrophic cardiomyopathy, an inherited thickening of the heart muscle that is a recognized cause of heart failure, arrhythmia, and sudden cardiac death in young people. Most disease causing variants are truncating, reducing the amount of functional protein, a mechanism called haploinsufficiency, and they are inherited in an autosomal dominant pattern with variable penetrance. A founder variant common in parts of South Asia has been widely studied. Cardiac myosin inhibitors, a newer class of drugs, act on the overactive contraction seen in hypertrophic cardiomyopathy.