SZT2
Chr 1ARSZT2 subunit of KICSTOR complex
Also known as: C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B
The protein is localized to peroxisomes and lysosomes and functions in resistance to oxidative stress by increasing superoxide dismutase activity. Biallelic mutations cause developmental and epileptic encephalopathy 18, an autosomal recessive disorder characterized by seizures and developmental delay. The pathogenic mechanism involves impaired oxidative stress resistance, which contributes to increased seizure susceptibility and epileptogenesis.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SZT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools