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 and Autosomal Dominant Spondylocostal Dysostosis. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and 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).