This gene encodes 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 gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

  • Negative regulation of transcription by RNA polymerase II
  • Vasculogenesis
  • Heart looping
  • Heart morphogenesis
  • Outflow tract septum morphogenesis
  • Atrial septal defect 7 with or without atrioventricular conduction defects
  • Ventricular septal defect 3
  • Hypothyroidism, congenital, nongoitrous, 5
  • Tetralogy of fallot
  • Hypoplastic left heart syndrome 2

Gene Location