Biology:SZT2
 Generic protein structure example |
Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene.[1]
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.[1]
Clinical significance
Mutations in this gene have been shown to cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.[2]
References
- ↑ 1.0 1.1 "Entrez Gene: Seizure threshold 2 homolog (mouse)". https://www.ncbi.nlm.nih.gov/gene/23334.
- ↑ "Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum". American Journal of Human Genetics 93 (3): 524–9. Sep 2013. doi:10.1016/j.ajhg.2013.07.005. PMID 23932106.
Further reading
- "Bridging expressed sequence alignments through targeted cDNA sequencing". Genomics 83 (4): 572–6. Apr 2004. doi:10.1016/j.ygeno.2003.07.003. PMID 15028280.
- "Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B". FEBS Letters 580 (14): 3401–8. Jun 2006. doi:10.1016/j.febslet.2006.05.012. PMID 16712842.
- "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Research 4 (5): 345–9. Oct 1997. doi:10.1093/dnares/4.5.345. PMID 9455484.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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