Gene Symbol | MYBPC3 |
Entrez Gene ID | 4607 |
Full Name | myosin binding protein C, cardiac |
Synonyms | CMD1MM,CMH4,FHC,LVNC10,MYBP-C |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, hypertrophic, 4, 115197 (3); Cardiomyopathy, dilated, 1MM, 615396 (3); Left ventricular noncompaction 10, 615396 (3) |