TBX1 Background Information Members of the T-box (Tbx) gene family share a conserved domain that codes for the T-box, a sequence involved in DNA-binding and protein dimerization. The Tbx gene family is largely conserved throughout metazoan evolution, and is implicated in a variety of developmental processes ranging from the formation of germ layers to the organizational patterning of the central nervous system. Both Tbx1 and retinoic acid (RA) are key players in embryonic pharyngeal development . The human genes TBX1 and TBX5 are mutated in cardiac congenital anomaly syndromes. In addition, TBX1 is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency and skeletal muscle hypotonia.
