KYAT1

kynurenine aminotransferase 1

Summary

This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants18 total

rsidPosition (GRCh37)AllelesClassClinVar
rs762536099:131,595,522G/Tupstream gene variant—
rs3740803969:131,596,048C/T—uncertain significance
rs756923489:131,596,074T/A—uncertain significance
rs1811554329:131,596,090G/A—uncertain significance
rs1464024919:131,597,679T/C—uncertain significance
rs7702050499:131,597,853G/A—uncertain significance
rs28051029:131,598,767A/Gintron variant—
rs7614748609:131,599,980T/C—uncertain significance
rs5592107699:131,600,016G/C—uncertain significance
rs5726291639:131,600,026C/T—likely benign
rs22808419:131,600,111T/G——
rs2011610369:131,600,410T/Cmissense variant—
rs18315153679:131,600,606C/G—uncertain significance
rs16159:131,607,259G/Aregulatory region variant—
rs22590439:131,607,921A/T——
rs1389494839:131,609,731G/A—benign
rs10296250629:131,627,454T/C——
rs9419609:131,641,032C/Gregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.