SZT2

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, KICS1
External IDs	OMIM: 615463; MGI: 3033336; HomoloGene: 49413; GeneCards: SZT2; OMA:SZT2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 43,389,882 bp[1] End 43,454,247 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.1 Start 118,219,940 bp[2] End 118,266,470 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon sural nerve granulocyte apex of heart anterior pituitary right lobe of thyroid gland right testis left lobe of thyroid gland left testis right hemisphere of cerebellum Top expressed in Rostral migratory stream Paneth cell fossa internal carotid artery hand substantia nigra condyle external carotid artery vas deferens cervix More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding molecular function Cellular component GATOR2 complex KICSTOR complex GATOR1 complex peroxisome lysosome lysosomal membrane membrane Biological process pigmentation 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 starvation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23334 230676 Ensembl ENSG00000198198 ENSMUSG00000033253 UniProt Q5T011 A2A9C3 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 Mb Chr 4: 118.22 – 118.27 Mb PubMed search [3] [4]
Wikidata
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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.^[5]

Clinical significance

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