HAAO
3-hydroxyanthranilate 3,4-dioxygenase
Summary
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]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4953657 | 2:42,993,782 | T/A | — | — |
| rs200552980 | 2:42,994,581 | C/A | — | uncertain significance |
| rs146242229 | 2:42,994,647 | C/G | — | uncertain significance |
| rs1670763072 | 2:42,994,771 | G/A | — | uncertain significance |
| rs768805615 | 2:42,994,777 | C/G | — | uncertain significance |
| rs34053133 | 2:42,994,814 | C/G | — | uncertain significance |
| rs150537416 | 2:42,995,018 | G/A | — | uncertain significance |
| rs372852437 | 2:42,995,041 | C/T | — | uncertain significance |
| rs113019865 | 2:42,995,058 | T/C | — | benign |
| rs3755540 | 2:42,995,840 | T/G | — | — |
| rs13413507 | 2:42,996,819 | A/G | — | benign |
| rs145337403 | 2:42,996,907 | C/T | — | likely benign |
| rs2466860098 | 2:42,996,917 | C/T | — | uncertain significance |
| rs1135401743 | 2:42,996,925 | C/T | — | pathogenic |
| rs142300589 | 2:42,996,959 | C/G | — | uncertain significance |
| rs2241850 | 2:42,997,614 | G/A | — | benign |
| rs2466863200 | 2:42,997,642 | A/G | — | uncertain significance |
| rs753503970 | 2:42,997,661 | C/T | — | uncertain significance |
| rs1443336014 | 2:42,997,667 | C/T | — | uncertain significance |
| rs1291869178 | 2:42,997,690 | A/G | — | uncertain significance |
| rs1363954556 | 2:43,010,481 | C/T | — | likely pathogenic |
| rs1672152382 | 2:43,010,503 | C/A | — | likely pathogenic |
| rs759103777 | 2:43,010,506 | C/T | — | likely benign |
| rs1244224815 | 2:43,010,515 | C/T | — | uncertain significance |
| rs2466896692 | 2:43,010,553 | A/G | — | likely pathogenic |
| rs1232096291 | 2:43,010,923 | C/T | — | likely pathogenic |
| rs780063763 | 2:43,010,934 | C/T | — | uncertain significance |
| rs369005564 | 2:43,010,941 | C/G | — | uncertain significance |
| rs34183220 | 2:43,010,950 | G/A | — | uncertain significance |
| rs199652625 | 2:43,010,968 | G/C | — | uncertain significance |
| rs149516535 | 2:43,010,973 | C/T | — | likely benign |
| rs1418570526 | 2:43,010,981 | C/T | — | uncertain significance |
| rs140941826 | 2:43,015,684 | G/A | — | benign |
| rs746702852 | 2:43,015,687 | G/T | — | pathogenic |
| rs1672558841 | 2:43,015,700 | C/T | — | conflicting classifications of pathogenicity |
| rs1048768411 | 2:43,015,703 | G/C | — | likely benign |
| rs3816182 | 2:43,015,704 | T/A | — | benign |
| rs1454175501 | 2:43,015,710 | G/A | — | uncertain significance |
| rs114894333 | 2:43,015,717 | G/A | — | benign |
| rs3816183 | 2:43,015,719 | T/C | missense variant | benign |
| rs3816184 | 2:43,015,757 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.