TBX20
Function
Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.
Involvement in disease
Atrial septal defect 4
ASD4
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
T-box transcription factor TBX20, T-box protein 20, TBX20