Aliases for KMO Gene
External Ids for KMO Gene
Previous GeneCards Identifiers for KMO Gene
This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]
GeneCards Summary for KMO Gene
KMO (Kynurenine 3-Monooxygenase) is a Protein Coding gene. Diseases associated with KMO include Transient Cerebral Ischemia and Paroxysmal Dyskinesia. Among its related pathways are Folate Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and kynurenine 3-monooxygenase activity. An important paralog of this gene is COQ6.
UniProtKB/Swiss-Prot Summary for KMO Gene
Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn) (PubMed:29429898, PubMed:23575632, PubMed:26752518, PubMed:28604669, PubMed:29208702). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable).
Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 188.8.131.52), steroid 11-beta hydroxylase (E.C. 184.108.40.206), and LTB4 omega-hydroxylase (E.C. 220.127.116.11).