DISEASES

Disease-gene associations mined from literature

Literature associating TBX6 and Klippel-Feil 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).

Synonyms:  TBX6,  TBX6p,  hTBX6,  A0A0D9SEK4,  O95947 ...

Linkouts:  STRING  Pharos  UniProt