rs528945377

This variant is located in the SZT2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication
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About SZT2

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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