Gene Symbol | SZT2 |
Entrez Gene ID | 23334 |
Full Name | SZT2, KICSTOR complex subunit |
Synonyms | C1orf84,EIEE18,KIAA0467,SZT2A,SZT2B |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jun 2011]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 18, 615476 (3) |