This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
- Negative regulation of transcription by RNA polymerase II
- Cell fate specification
- Morphogenesis of an epithelium
- Bundle of His development
- Atrioventricular valve morphogenesis
- Holt-oram syndrome
- Ventricular septal defect
- Patent foramen ovale
- Atrial septal defect 1
- Heart, malformation of
Structure of protein TBX5.Based on PyMOL rendering of PDB 2X6U. Pleiotrope.
Gene Location
