SZT2 explained

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]

Further reading

• Xie H, Diber A, Pollock S, Nemzer S, Safer H, Meloon B, Olson A, Hwang JJ, Endress GA, Savitsky K, Gill-More R . Bridging expressed sequence alignments through targeted cDNA sequencing . Genomics . 83 . 4 . 572–6 . Apr 2004 . 15028280 . 10.1016/j.ygeno.2003.07.003 .
• Chen L, Madura K . Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B . FEBS Letters . 580 . 14 . 3401–8 . Jun 2006 . 16712842 . 10.1016/j.febslet.2006.05.012 . 26793593 .
• Seki N, Ohira M, Nagase T, Ishikawa K, Miyajima N, Nakajima D, Nomura N, Ohara O . Characterization of cDNA clones in size-fractionated cDNA libraries from human brain . DNA Research . 4 . 5 . 345–9 . Oct 1997 . 9455484 . 10.1093/dnares/4.5.345 . free .

Notes and References

1. Web site: Entrez Gene: Seizure threshold 2 homolog (mouse) .
2. Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G . Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum . American Journal of Human Genetics . 93 . 3 . 524–9 . Sep 2013 . 23932106. 3769928. 10.1016/j.ajhg.2013.07.005 .