Home > A. Molecular pathology > NKX2E
NKX2E
MIM.600584 5q34
Sunday 19 June 2005
NKX2-5 is one of the key transcription factors required for the differentiation of mesodermal progenitor cells.
Pathology
germline mutations in atrial septal defect secundum and atrioventricular conduction defects (MIM.108900)
somatic mutations in patients with complex cardiac malformations (15342699, 15161646)