Probable transcriptional regulator involved in developmental processes.
Defects in TBX20 are the cause of atrial septal defect type 4 (ASD4) [MIM:611363]. ASD4 is 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. ASD4 patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. ASD4 is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.