Disease-gene associations mined from literature

Literature associating NPRL2 and focal epilepsy

NPRL2 [ENSP00000232501]

Nitrogen permease regulator-like 2 (S. cerevisiae); 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 NPR2 family.

Synonyms:  NPRL2,  NPRL2p,  hNPRL2,  F2Z2R8,  F2Z3D4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM