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. MYBPC3, the cardiac isoform, is expressed
exclussively 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. Mutations in MYBPC3 are one cause of familial
hypertrophic cardiomyopathy.
