DISEASES

Disease-gene associations mined from literature

Literature associating TAOK3 and Kabuki syndrome

TAOK3 [ENSP00000376317]

Cutaneous T-cell lymphoma-associated antigen HD-CL-09; Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress- activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF).

Synonyms:  TAOK3,  TAOK3p,  hTAOK3,  F5GWV8,  F5GX96 ...

Linkouts:  STRING  Pharos  UniProt