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The protein encoded by C1orf84 is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. Additionally we are shipping Chromosome 1 Open Reading Frame 84 Proteins (2) and many more products for this protein.
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While the biological function of Szt2 remains unknown, its high conservation, unique structure and effect on seizure threshold suggest that it serves an important role in the central nervous system.
We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate intellectual disability without seizures.
mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy.
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.
Seizure threshold 2 protein
, Transcript increased in glutamate resistance
, protein SZT2
, seizure threshold 2 protein homolog