DISEASES

Disease-gene associations mined from literature

Literature associating TTC3 and retinitis pigmentosa 58

TTC3 [ENSP00000381981]

RING-type E3 ubiquitin transferase TTC3; E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of 'Lys-48'- polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT; Ring finger proteins

Synonyms:  TTC3,  TTC3p,  hTTC3,  TTC3P1,  A8MT23 ...

Linkouts:  STRING  Pharos  UniProt