The MYBPC3 gene homepage
| General information |
| Gene symbol |
MYBPC3 |
| Gene name |
myosin binding protein C, cardiac |
| Chromosome |
11 |
| Chromosomal band |
p11.2 |
| Imprinted |
- |
| Genomic reference |
NG_007667.1 |
| Transcript reference |
NM_000256.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
340 |
| Unique public DNA variants reported |
208 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: FHC; CMH4; MYBP-C |
| Date created |
May 01, 2013 |
Active transcripts
| Copyright & disclaimer |
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