Human pathology

Home page > A. Molecular pathology > NKX2E

NKX2E

MIM.600584 5q34

NKX2-5

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)