TMEM43
Associated conditions:
- Cardiomyopathy
TMEM43 makes a protein anchored in the membrane around the cell nucleus. Genetic changes in this gene, most often one specific variant, are associated with an autosomal dominant condition called arrhythmogenic right ventricular cardiomyopathy type 5, in which heart muscle is gradually replaced by fibrous and fatty tissue, driving rhythm problems and sudden death. Knowing your genetic status enables early monitoring that can guide a life-saving defibrillator.
Conditions linked to TMEM43
Cardiomyopathy
Cardiomyopathy is disease of the heart muscle that can make it thickened, enlarged or weakened. Inherited forms can affect the heart’s pumping or rhythm, so carriers are monitored with heart scans and ECGs and treated early to protect heart function.
