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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HAAO
3-hydroxyanthranilate 3,4-dioxygenase
Chromosome 2 Β· 2p21
NCBI Gene: 23498Ensembl: ENSG00000162882.16HGNC: HGNC:4796UniProt: P46952
32PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
3-hydroxyanthranilate 3,4-dioxygenase activityprotein bindingferrous iron bindingNAD+ biosynthetic processvertebral, cardiac, renal, and limb defects syndrome 1congenital vertebral-cardiac-renal anomalies syndromeprostate carcinomahypertension
✦AI Summary

HAAO (3-hydroxyanthranilate 3,4-dioxygenase) catalyzes the oxidative ring opening of 3-hydroxyanthranilate to form 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate 1. This enzyme functions as a critical step in the kynurenine pathway, which synthesizes NAD+ de novo from tryptophan 1. HAAO consumes 3-hydroxyanthranilic acid (3-HA), a tryptophan metabolite that acts as a potent antioxidant; by depleting 3-HA, HAAO inhibits its ferroptosis-protective effects in cancer cells, and its expression correlates with lipid peroxidation and poor clinical outcomes 2. HAAO is also regulated by transcription factors HNF4A and HNF1A in pancreatic beta cells, with potential roles in beta cell function 3. HAAO is associated with congenital NAD deficiency disorder (CNDD), characterized by vertebral, cardiac, renal, and limb defects; biallelic loss-of-function variants in HAAO cause severe NAD deficiency during gestation, which niacin supplementation can prevent 14. Additionally, HAAO expression is downregulated in particulate matter-exposed macrophages during chr2 obstructive pulmonary disease pathogenesis, contributing to impaired NAD+-dependent histone deacetylation and pro-inflammatory activation 5. HAAO also participates in 3-HA degradation pathways affecting cognitive function, as altered HAAO expression in response to microbiota changes influences attention in obesity 6.

Sources cited
1
HAAO catalyzes ring opening of 3-hydroxyanthranilate in NAD de novo synthesis; loss-of-function variants cause NAD deficiency and congenital malformations preventable by niacin
PMID: 28792876
2
HAAO depletes 3-HA, inhibiting its antioxidant-mediated ferroptosis protection; HAAO expression correlates with lipid peroxidation and clinical outcomes in cancer
PMID: 36627132
3
HNF4A and HNF1A transcription factors bind and regulate HAAO in pancreatic beta cells with potential functional roles in beta cell regulation
PMID: 38909044
4
Biallelic HAAO loss-of-function variants cause congenital NAD deficiency disorder with multiple malformations; metabolic signatures useful for diagnosis
PMID: 38357931
5
HAAO expression is downregulated in PM-exposed macrophages via CTCF-mediated chromatin changes, contributing to NAD+-dependent epigenetic dysregulation in COPD
PMID: 37988864
6
HAAO regulates 3-HA degradation; altered HAAO expression in microbiota-modulated prefrontal cortex influences attention via dopaminergic and tryptophan pathways
PMID: 41015495
Disease Associationsβ“˜21
vertebral, cardiac, renal, and limb defects syndrome 1Open Targets
0.73Strong
congenital vertebral-cardiac-renal anomalies syndromeOpen Targets
0.60Moderate
prostate carcinomaOpen Targets
0.45Moderate
hypertensionOpen Targets
0.44Moderate
benign prostatic hyperplasiaOpen Targets
0.39Weak
cardiovascular diseaseOpen Targets
0.35Weak
hypospadiasOpen Targets
0.35Weak
Increased blood pressureOpen Targets
0.35Weak
prostate cancerOpen Targets
0.34Weak
cerebral small vessel diseaseOpen Targets
0.33Weak
bone fractureOpen Targets
0.30Weak
acute tonsillitisOpen Targets
0.25Weak
essential hypertensionOpen Targets
0.24Weak
vein disorderOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.21Weak
lymphatic system diseaseOpen Targets
0.19Weak
diabetic eye diseaseOpen Targets
0.19Weak
skin diseaseOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
Abnormality of the immune systemOpen Targets
0.19Weak
Vertebral, cardiac, renal, and limb defects syndrome 1UniProt
Pathogenic Variants10
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)Pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 1|Congenital NAD deficiency disorder
β˜…β˜…β˜†β˜†2018β†’ Residue 186
NM_012205.3(HAAO):c.483dup (p.Asp162Ter)Pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 1|Congenital NAD deficiency disorder
β˜…β˜…β˜†β˜†2018β†’ Residue 162
NM_012205.3(HAAO):c.382_385del (p.Phe128fs)Pathogenic
Monogenic hearing loss
β˜…β˜†β˜†β˜†2025β†’ Residue 128
NM_012205.3(HAAO):c.251T>C (p.Leu84Pro)Likely pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)Likely pathogenic
Congenital NAD deficiency disorder|not provided|Vertebral, cardiac, renal, and limb defects syndrome 1
β˜…β˜†β˜†β˜†2021β†’ Residue 101
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)Likely pathogenic
Congenital NAD deficiency disorder|not provided|Vertebral, cardiac, renal, and limb defects syndrome 1
β˜…β˜†β˜†β˜†2021β†’ Residue 108
NM_012205.3(HAAO):c.21del (p.Arg8fs)Likely pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 1
β˜…β˜†β˜†β˜†2021β†’ Residue 8
NM_012205.3(HAAO):c.243+1G>ALikely pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 1
β˜…β˜†β˜†β˜†2019
NM_012205.3(HAAO):c.141C>A (p.His47Gln)Pathogenic
Congenital NAD deficiency disorder|Vertebral, cardiac, renal, and limb defects syndrome 1
β˜†β˜†β˜†β˜†2022β†’ Residue 47
NM_012205.3(HAAO):c.43del (p.Arg15fs)Pathogenic
Congenital NAD deficiency disorder|Vertebral, cardiac, renal, and limb defects syndrome 1
β˜†β˜†β˜†β˜†2022β†’ Residue 15
View on ClinVar β†—
Related Genes
TDO2Protein interaction100%AADATProtein interaction98%CATProtein interaction91%GAD1Protein interaction80%KMOProtein interaction74%QPRTProtein interaction72%
Tissue Expression6 tissues
Liver
100%
Ovary
8%
Heart
3%
Bone Marrow
3%
Lung
2%
Brain
0%
Gene Interaction Network
Click a node to explore
HAAOTDO2AADATCATGAD1KMOQPRT
PROTEIN STRUCTURE
Preparing viewer…
PDB2QNK Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.54LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.19 [0.93–1.54]
RankingsWhere HAAO stands among ~20K protein-coding genes
  • #11,523of 20,598
    Most Researched32
  • #2,886of 5,498
    Most Pathogenic Variants10
  • #15,410of 17,882
    Most Constrained (LOEUF)1.54
Genes detectedHAAO
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tryptophan Metabolism Acts as a New Anti-Ferroptotic Pathway to Mediate Tumor Growth.
PMID: 36627132
Adv Sci (Weinh) Β· 2023
1.00
2
HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes.
PMID: 38909044
Nat Commun Β· 2024
0.90
3
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
PMID: 28792876
N Engl J Med Β· 2017
0.80
4
PMID: 37499065
0.70
5
Gut microbial modulation of 3-hydroxyanthranilic acid and dopaminergic signalling influences attention in obesity.
PMID: 41015495
Gut Β· 2026
0.60