NKX2.5 is crucial for the proper formation of the heart. It regulates the expression of several downstream genes involved in cardiogenesis, including those coding for structural proteins, signaling molecules, and other transcription factors. This regulation ensures the correct formation of cardiac chambers, septa, and valves. Disruptions in NKX2.5 function can lead to congenital heart defects such as atrial and ventricular septal defects.
