DISEASES

Disease-gene associations mined from literature

Literature associating BTBD10 and progressive myoclonus epilepsy 1A

BTBD10 [ENSP00000431186]

BTB/POZ domain-containing protein 10; Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells.

Synonyms:  BTBD10,  BTBD10p,  hBTBD10,  B7Z503,  D3DQW7 ...

Linkouts:  STRING  Pharos  UniProt