Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene .[5]
SZT2 Identifiers Aliases SZT2 , C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B, seizure threshold 2 homolog (mouse), KICSTOR complex subunit, SZT2 subunit KICSTOR complex, SZT2 subunit of KICSTOR complex, DEE18, KICS1External IDs OMIM : 615463 MGI : 3033336 HomoloGene : 49413 GeneCards : SZT2 Wikidata
Function
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Clinical significance
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References
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^ 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, 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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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 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .