Entrez gene ID | | 4607 |
Official gene symbol | | MYBPC3 |
Full name | | myosin binding protein C, cardiac |
Aliases | | ,CMH4,DKFZp779E1762,FHC,MYBP-C, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11p11.2 |
Gene position | | 47374253 - 47352957 Map Viewer |
Gene orientation | | minus |
Gene size | | 21297 bp |
Gene sequence |
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OMIM ID | | 600958 |