Background

TBX6 (T-Box Transcription Factor 6) is a Protein Coding gene. Diseases associated with TBX6 include Spondylocostal Dysostosis 5 and Scoliosis. Among its related pathways are Gene regulatory network modelling somitogenesis and 16p11.2 proximal deletion syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II-specific DNA-binding transcription factor binding. An important paralog of this gene is MGA. T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity). ( TBX6_HUMAN,O95947 )