Aliases for HAAO Gene
External Ids for HAAO Gene
Previous GeneCards Identifiers for HAAO Gene
3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
GeneCards Summary for HAAO Gene
HAAO (3-Hydroxyanthranilate 3,4-Dioxygenase) is a Protein Coding gene. Diseases associated with HAAO include Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 and Congenital Vertebral-Cardiac-Renal Anomalies Syndrome. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and superpathway of tryptophan utilization. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding.
UniProtKB/Swiss-Prot Summary for HAAO Gene
Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.