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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 Antibodies (21) and many more products for this protein.
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in mice that lack SZT2, mTORC1 signalling is increased in several tissues, including (show KPTN Proteins)in neurons in the brain
SZT2 has a central role in dictating GATOR-dependent nutrient sensing by promoting lysosomal localization of SZT2-orchestrated GATOR complex, and reveal an unexpected function of lysosome-located GATOR2 in suppressing mTORC1 signalling through SESN recruitment
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.
identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN (show KPTN Proteins), ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells
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