Aliases for SZT2 Gene
External Ids for SZT2 Gene
Previous HGNC Symbols for SZT2 Gene
Previous GeneCards Identifiers for SZT2 Gene
The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]
GeneCards Summary for SZT2 Gene
SZT2 (SZT2, KICSTOR Complex Subunit) is a Protein Coding gene. Diseases associated with SZT2 include Epileptic Encephalopathy, Early Infantile, 18 and Early Infantile Epileptic Encephalopathy Without Suppression Burst.
UniProtKB/Swiss-Prot for SZT2 Gene
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 (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity).