Gene: SZT2

Alternate names for this Gene: C1orf84|DEE18|EIEE18|KIAA0467|SZT2A|SZT2B

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: SZT2 subunit of KICSTOR complex

Type of Gene: protein-coding

rs886041034 in SZT2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 PMID 23932106 2013 Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

rs1306918506 in SZT2 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.