HAAO 3-hydroxyanthranilate 3,4-dioxygenase
Gene ID: 23498, updated on 5-Mar-2024Gene type: protein coding
Also known as: HAO; 3-HAO; VCRL1; h3HAO
- See all available tests in GTR for this gene
- Go to complete Gene record for HAAO
- Go to Variation Viewer for HAAO variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available | |
Vertebral, cardiac, renal, and limb defects syndrome 1 | See labs |
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (42767089..42792583, complement)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for HAAO variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.