UniProt Protein Function: | SZT2: Involved in oxidative stress. May be involved in superoxide dismutase activity and in neuroprotective effect of peroxisomes, but has no direct dismutase activity when tested in yeast. May enhance epileptogenesis and confer low seizure threshold. 4 isoforms of the human protein are produced by alternative splicing.Protein type: Unknown functionChromosomal Location of Human Ortholog: 1p34.2Cellular Component: peroxisomeBiological Process: central nervous system development; pigmentation; corpus callosum morphogenesis; post-embryonic developmentDisease: Epileptic Encephalopathy, Early Infantile, 18 |
UniProt Protein Details: | |
NCBI Summary: | 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. [provided by RefSeq, Jun 2011] |
UniProt Code: | Q5T011 |
NCBI GenInfo Identifier: | 31127243 |
NCBI Gene ID: | 23334 |
NCBI Accession: | BC052802 |
UniProt Secondary Accession: | Q5T011,O75055, Q5JUY7, Q5T012, Q5XKC7, Q6ZNI8, Q6ZT24 Q7Z636, Q8NAY9, Q9H5H7 |
UniProt Related Accession: | Q5T011 |
Molecular Weight: | 20,286 Da |
NCBI Full Name: | Homo sapiens KIAA0467, mRNA |
NCBI Synonym Full Names: | seizure threshold 2 homolog (mouse) |
NCBI Official Symbol: | SZT2Â Â |
NCBI Official Synonym Symbols: | SZT2A; SZT2B; EIEE18; C1orf84; KIAA0467Â Â |
NCBI Protein Information: | protein SZT2; RP11-506B15.1; seizure threshold 2 protein homolog |
UniProt Protein Name: | Protein SZT2 |
UniProt Synonym Protein Names: | Seizure threshold 2 protein homolog |
Protein Family: | Protein |
UniProt Gene Name: | SZT2Â Â |
UniProt Entry Name: | SZT2_HUMAN |