DISEASES

Disease-gene associations mined from literature

Literature associating NPRL3 and focal epilepsy

NPRL3 [ENSP00000483814]

Alpha-globin regulatory element-containing gene protein; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway; Belongs to the NPR3 family.

Synonyms:  NPRL3,  NPRL3p,  hNPRL3,  B1B1F5,  B7Z5D6 ...

Linkouts:  STRING  Pharos  UniProt