MYBPC3
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | myosin binding protein C, cardiac |
| EntrezGene | 4607 |
| PheGenI | 4607 |
| VariationViewer | 4607 |
| ClinVar | MYBPC3 |
| GeneCards | MYBPC3 |
| dbSNP | 4607 |
| Diseases | MYBPC3 |
| SADR | 4607 |
| HugeNav | 4607 |
| wikipedia | MYBPC3 |
| MYBPC3 | |
| gopubmed | MYBPC3 |
| EVS | MYBPC3 |
| HEFalMp | MYBPC3 |
| MyGene2 | MYBPC3 |
| 23andMe | MYBPC3 |
| UniProt | Q14896 |
| Ensembl | ENSG00000134571 |
| OMIM | 600958 |
| # SNPs | 537 |
The MYBPC3 gene provides instructions for making cardiac myosin binding protein C (cardiac MyBP-C), which is found in heart (cardiac) muscle cells. Mutations in the MYBPC3 gene have been associated with familial hypertrophic cardiomyopathy, left ventricular noncompaction, and familial dilated cardiomyopathy.GHR
Mutations in the MYBPC3 gene are a common cause of familial hypertrophic cardiomyopathy, accounting for up to 30 percent of all dominantly inherited cases.
