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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.
Gene Name: | myosin binding protein C, cardiac |
Synonyms: | MYBPC3, Cardiac MyBP-C, CMH4, FHC, MYBP-C |
Target Sequences: | NM_000256 NP_000247.2 Q14896 |
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