NKX2.5 (2E1) Antibody

NKX2.5 (NK2 transcription factor related) is a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this protein can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition.