HAAO Chromosome 2
3-hydroxyanthranilate 3,4-dioxygenase
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What This Gene Does
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]
Associated Conditions (5)
Vertebral
cardiac
renal
and limb defects syndrome 1
Congenital NAD deficiency disorder
Key Variants
RS1672558841
Conflicting classifications of pathogenicity
Vertebral, cardiac, renal
Health Risk
RS1227604776
Likely pathogenic
Vertebral, cardiac, renal
Health Risk
RS1232096291
Likely pathogenic
Vertebral, cardiac, renal
Health Risk
RS1363954556
Likely pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS1672152382
Likely pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS2466896692
Likely pathogenic
Vertebral, cardiac, renal
Health Risk
RS1135401743
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS1558680405
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS527656756
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS746702852
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1672558841 | Health Risk | Conflicting classifications of pathogenicity | Vertebral, cardiac, renal |
| RS1227604776 | Health Risk | Likely pathogenic | Vertebral, cardiac, renal |
| RS1232096291 | Health Risk | Likely pathogenic | Vertebral, cardiac, renal |
| RS1363954556 | Health Risk | Likely pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS1672152382 | Health Risk | Likely pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS2466896692 | Health Risk | Likely pathogenic | Vertebral, cardiac, renal |
| RS1135401743 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS1558680405 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS527656756 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS746702852 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |