MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. It is found in regularly spaced intervals and is hypothesised to act as like a "barrel hoop" and hold the thick filament together. MYBPC3, the cardiac isoform, is expressed exclusively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction.
A deletion of 25 bp in the gene encoding the MYBPC3 protein is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations. It is found in the thick filaments of sarcomeres(myosin).
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