Species Human Entrez 23334 | Human Mouse Ensembl ENSG00000198198 | |
Aliases SZT2, C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B, seizure threshold 2 homolog (mouse) External IDs MGI: 3033336 HomoloGene: 49413 GeneCards: SZT2 | ||
Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene.
Contents
Function
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.
Clinical significance
Mutations in this gene have been shown to cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
References
SZT2 Wikipedia(Text) CC BY-SA