Disease-gene associations mined from literature

Literature associating SZT2 and early infantile epileptic encephalopathy 13

SZT2 [ENSP00000457168]

Seizure threshold 2 homolog (mouse); As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. May play a role in the cellular response to oxidative stress (By similarity).

Synonyms:  SZT2,  SZT2p,  hSZT2,  E2QRB6,  Q5T011 ...

Linkouts:  STRING  Pharos  UniProt