SZT2 Chromosome 1
SZT2 subunit of KICSTOR complex
Upload your DNA to see your personal genotypes for variants in SZT2.
What This Gene Does
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. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
"KICSTOR complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000198198
Associated Conditions (15)
Inborn genetic diseases
SZT2-related disorder
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Developmental and epileptic encephalopathy
18
Intellectual disability
Severe hydrocephalus
Encephalocele
Seizure
See cases
Self-limited epilepsy with centrotemporal spikes
Cervical cancer
Key Variants
RS112994383
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138028425
Conflicting classifications of pathogenicity
Inborn genetic diseases, SZT2-related disorder, Colon adenocarcinoma
Health Risk
RS138401303
Conflicting classifications of pathogenicity
Health Risk
RS138585463
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 18, Inborn genetic diseases
Health Risk
RS138762270
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 18, Inborn genetic diseases
Health Risk
RS139147641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139803823
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy
Health Risk
RS140004653
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 18, Inborn genetic diseases
Health Risk
RS1404132920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140427193
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142611359
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 18
Health Risk
RS143185010
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (223)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766235917 | Health Risk | Pathogenic | — |
| RS772418993 | Health Risk | Pathogenic | — |
| RS773684718 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS776627066 | Health Risk | Pathogenic | — |
| RS780805483 | Health Risk | Pathogenic | Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS886041034 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS886041594 | Health Risk | Pathogenic | — |
| RS909158021 | Health Risk | Pathogenic | — |
| RS932654754 | Health Risk | Pathogenic | — |
| RS980459888 | Health Risk | Pathogenic | — |
| RS1005930319 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS145577757 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 18 |
| RS1654854600 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS200178393 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS2545850014 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS746200792 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, SZT2-related disorder |
| RS751581199 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS761810492 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS764896693 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS766341332 | Health Risk | Pathogenic/Likely pathogenic | SZT2-related disorder, Developmental and epileptic encephalopathy, 18 |
| RS767342365 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS769366055 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 18, Developmental and epileptic encephalopathy |
| RS777424455 | Health Risk | Pathogenic/Likely pathogenic | — |