This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

  • Negative regulation of transcription by RNA polymerase II
  • Branching involved in blood vessel morphogenesis
  • Vasculogenesis
  • Endoderm formation
  • Cell fate specification
  • Atrial septal defect 4
  • Hypoplastic left heart syndrome
  • Hypoplastic right heart syndrome
  • Wolff-parkinson-white syndrome
  • Patent foramen ovale

Gene Location