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]
^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. PMC3769928. PMID 23932106.
Further readingedit
Xie H, Diber A, Pollock S, Nemzer S, Safer H, Meloon B, Olson A, Hwang JJ, Endress GA, Savitsky K, Gill-More R (Apr 2004). "Bridging expressed sequence alignments through targeted cDNA sequencing". Genomics. 83 (4): 572–6. doi:10.1016/j.ygeno.2003.07.003. PMID 15028280.
Chen L, Madura K (Jun 2006). "Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B". FEBS Letters. 580 (14): 3401–8. doi:10.1016/j.febslet.2006.05.012. PMID 16712842. S2CID 26793593.
Seki N, Ohira M, Nagase T, Ishikawa K, Miyajima N, Nakajima D, Nomura N, Ohara O (Oct 1997). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Research. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.
szt2, seizure, threshold, homolog, protein, that, humans, encoded, gene, identifiersaliases, c1orf84, eiee18, kiaa0467, seizure, threshold, homolog, mouse, kicstor, complex, subunit, subunit, kicstor, complex, subunit, kicstor, complex, dee18, kics1external, i. Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene 5 SZT2IdentifiersAliasesSZT2 C1orf84 EIEE18 KIAA0467 SZT2A SZT2B seizure threshold 2 homolog mouse KICSTOR complex subunit SZT2 subunit KICSTOR complex SZT2 subunit of KICSTOR complex DEE18 KICS1External IDsOMIM 615463 MGI 3033336 HomoloGene 49413 GeneCards SZT2Gene location Human Chr Chromosome 1 human 1 Band1p34 2Start43 389 882 bp 1 End43 454 247 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 4 D2 1Start118 219 940 bp 2 End118 266 470 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insural nerveanterior pituitaryright lobe of thyroid glandleft lobe of thyroid glandbone marrow cellsgastric mucosaAchilles tendonleft uterine tubetransverse colonright uterine tubeTop expressed inPaneth cellfossainternal carotid arteryhandsubstantia nigracondyleexternal carotid arteryvas deferenscervixright lung lobeMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein binding molecular functionCellular componentGATOR2 complex KICSTOR complex GATOR1 complex peroxisome lysosome lysosomal membrane membraneBiological processpigmentation corpus callosum morphogenesis central nervous system development regulation of superoxide dismutase activity post embryonic development cellular response to glucose starvation protein localization to lysosome negative regulation of TORC1 signaling response to nutrient levels cellular response to amino acid starvationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez23334230676EnsemblENSG00000198198ENSMUSG00000033253UniProtQ5T011A2A9C3RefSeq mRNA NM 001012960NM 001012961NM 015284NM 182518NM 001365999NM 198170RefSeq protein NP 056099NP 001352928NP 937813Location UCSC Chr 1 43 39 43 45 MbChr 4 118 22 118 27 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further readingFunction editThe 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 editMutations in this gene have been shown to cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000198198 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000033253 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene Seizure threshold 2 homolog mouse 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 Nurnberg 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 editXie H Diber A Pollock S Nemzer S Safer H Meloon B Olson A Hwang JJ Endress GA Savitsky K Gill More R Apr 2004 Bridging expressed sequence alignments through targeted cDNA sequencing Genomics 83 4 572 6 doi 10 1016 j ygeno 2003 07 003 PMID 15028280 Chen L Madura K Jun 2006 Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B FEBS Letters 580 14 3401 8 doi 10 1016 j febslet 2006 05 012 PMID 16712842 S2CID 26793593 Seki N Ohira M Nagase T Ishikawa K Miyajima N Nakajima D Nomura N Ohara O Oct 1997 Characterization of cDNA clones in size fractionated cDNA libraries from human brain DNA Research 4 5 345 9 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 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SZT2 amp oldid 1198039013, wikipedia, wiki, book, books, library,
