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SZT2

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SZT2
Identifiers
AliasesSZT2, C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B, seizure threshold 2 homolog (mouse), KICSTOR complex subunit, SZT2 subunit KICSTOR complex, SZT2 subunit of KICSTOR complex, DEE18, KICS1
External IDsOMIM: 615463; MGI: 3033336; HomoloGene: 49413; GeneCards: SZT2; OMA:SZT2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001012960
NM_001012961
NM_015284
NM_182518
NM_001365999

NM_198170

RefSeq (protein)

NP_056099
NP_001352928

NP_937813

Location (UCSC)Chr 1: 43.39 – 43.45 MbChr 4: 118.22 – 118.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene.[5]

Function

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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.[5]

Clinical significance

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Mutations in this gene have been shown to cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198198Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033253Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: Seizure threshold 2 homolog (mouse)".
  6. ^ 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 (Sep 2013). "Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum". American Journal of Human Genetics. 93 (3): 524–9. doi:10.1016/j.ajhg.2013.07.005. PMC 3769928. PMID 23932106.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.