NKX2-5 Gene
NKX2-5 encodes an NK-2 homeodomain transcription factor known to control an evolutionary conserved cardiac regulatory network. The characterization of NKX2-5 as a master regulator of the transcriptional activity of cardiac-specific genes like NPPA and the early and broad expression of the gene in the heart is suggestive of a role in cardio genesis. NKX2-5 mutations are associated with different forms of congenital heart disease. Diseases associated with NKX2-5 include atrial septal defect with or without atrioventricular conduction defects and ventricular septal defects.
