Gene: SZT2

Alternate names for this Gene: C1orf84|DEE18|EIEE18|KIAA0467|SZT2A|SZT2B

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: SZT2 subunit of KICSTOR complex

Type of Gene: protein-coding

Gene: HYI

Alternate names for this Gene: HT036

Gene Summary: This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: hydroxypyruvate isomerase (putative)

Type of Gene: protein-coding

rs182798940 in SZT2;HYI gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs6954 in SZT2;HYI gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.