NKX2.5 is a member of the NKX homeobox transcription factor family. NKX2.5 plays an essential role in heart development and is among the earliest factors expressed in cardiac lineage of developing embryos. Its targeted disruption in mice causes abnormal heart morphogenesis, severe growth retardation, and embryonic lethality around E9.5. Defects in NKX2.5 is associated with several forms of congenital heart diseases, such as atrial defect with atrioventricular conduction defects (ASD-AVCD) and tetralogy of Fallot (TOF). Transcription activation of NKX2.5 is also associated with certain B and T cell leukemias resultant from chromosomal translocation.
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