DISEASES

Disease-gene associations mined from literature

Literature associating TBX6 and thrombocytopenia-absent radius syndrome

TBX6 [ENSP00000378650]

T-box transcription factor TBX6; 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); T-boxes

Synonyms:  TBX6,  TBX6p,  hTBX6,  O95947,  O95947p ...

Linkouts:  STRING  Pharos  UniProt