SZT2 Subunit of KICSTOR Complex

Alternative Names

  • SZT2
  • Seizure Threshold 2, Mouse Homolog of
  • KIAA0467
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OMIM Number

615463

NCBI Gene ID

23334

Uniprot ID

Q5T011

Length

69,418 bases

No. of Exons

76

No. of isoforms

4

Protein Name

KICSTOR complex protein SZT2

Molecular Mass

378029 Da

Amino Acid Count

3432

Genomic Location

chr1:43,384,830-43,454,247

Gene Map Locus
1p34.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015284.4:c.7341-2G>ALebanonchr1:43441502Likely PathogenicEpileptic Encephalopathy, Early Infantile, 18NG_029091.1:g.56618A>G; NM_015284.4:c.7341-2G>A
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