External Ids for TBX6 Gene
Previous GeneCards Identifiers for TBX6 Gene
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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
GeneCards Summary for TBX6 Gene
TBX6 (T-Box 6) is a Protein Coding gene. Diseases associated with TBX6 include spondylocostal dysostosis 5, autosomal dominant and autosomal dominant spondylocostal dysostosis. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II activating transcription factor binding. An important paralog of this gene is TBX20.
UniProtKB/Swiss-Prot for TBX6 Gene
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).