Background of the antigen
MYBPC3 encodes the cardiac isoform of the thick-filament myosin-binding protein C. It is found in the crossbridge-bearing zone (C region) of A bands in vertebrate striated muscle. Regulatory phosphorylation of MYBPC3 by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. MYBPC3 binds F-Actin, MHC and native thin filaments, and modifies the activity of Actin-activated myosin ATPase. Mutations in the MYBPC3 gene lead mainly to truncation of the protein, which results in one cause of familial hypertrophic cardiomyopathy type 4 (CMH4), a heart disorder characterized by ventricular hypertrophy, which often involves the interventricular septum and is usually asymmetric. The MYBPC3 gene maps to chromosome 11p11.2.
