SZT2

Seizure threshold 2 homolog is a is_associated_with::protein that in humans is encoded by the SZT2 is_associated_with::gene.

Function
The protein encoded by this gene is expressed in the brain, predominantly in the parietal and is_associated_with::frontal cortex as well as in is_associated_with::dorsal root ganglia. It is localized to the is_associated_with::peroxisome, and is implicated in resistance to is_associated_with::oxidative stress. It likely functions by increasing is_associated_with::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 is_associated_with::epileptogenesis.

Clinical significance
Mutations in this gene have been shown to cause infantile is_associated_with::encephalopathy with is_associated_with::epilepsy and dysmorphic corpus callosum.