SZT2
Description
The SZT2 (SZT2 subunit of KICSTOR complex) is a protein-coding gene located on chromosome 1.
SZT2, also known as Seizure Threshold 2 protein homolog, is a protein encoded by the SZT2 gene in humans. It is predominantly expressed in the brain, specifically in the parietal and frontal cortex, as well as in dorsal root ganglia. SZT2 is localized to the peroxisome and is implicated in resistance to oxidative stress. It enhances superoxide dismutase (SOD) activity, although it does not possess direct SOD activity itself. Research in mice indicates that SZT2 contributes to a low seizure threshold and may enhance epileptogenesis. Mutations in the SZT2 gene have been linked to infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
SZT2 is a component of the KICSTOR complex, which plays a role in the amino acid-sensing branch of the TORC1 signaling pathway. It recruits the GATOR1 complex to the lysosomal membranes in an amino acid-independent manner, facilitating interaction with GATOR2 and the RAG GTPases. SZT2 acts upstream of the RAG GTPases and is essential for negatively regulating mTORC1 signaling in the absence of amino acids. Without the KICSTOR complex, mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also likely involved in glucose-mediated regulation of mTORC1. Additionally, SZT2 may contribute to the cellular response to oxidative stress.
SZT2 is also known as C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B.
