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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. Zusätzlich bieten wir Ihnen Chromosome 1 Open Reading Frame 84 Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN (zeige KPTN Antikörper), ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells
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
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 homolog