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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HAO1
hydroxyacid oxidase 1
Chromosome 20 Β· 20p12.3
NCBI Gene: 54363Ensembl: ENSG00000101323.6HGNC: HGNC:4809UniProt: A8K058
25PubMed Papers
20Diseases
2Drugs
1Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peroxisomal matrixglycolate catabolic processfatty acid alpha-oxidationglyoxylate oxidase activitycalcium oxalate urolithiasisnephrolithiasis, calcium oxalateprimary hyperoxaluriaprimary hyperoxaluria type 1
✦AI Summary

HAO1 encodes hydroxyacid oxidase 1 (glycolate oxidase), a peroxisomal enzyme with broad substrate specificity that preferentially oxidizes glycolate to glyoxylate 12. The glyoxylate product is subsequently utilized by alanine-glyoxylate aminotransferase for peroxisomal glycine synthesis, representing a critical detoxification pathway for glyoxylate that prevents its accumulation and conversion to oxalate, which causes kidney stone formation 23. HAO1 can also catalyze oxidation of glyoxylate and long-chain hydroxyacids at lower efficiency, using molecular oxygen as the physiological electron acceptor and generating hydrogen peroxide 14. HAO1 silencing is therapeutically significant for primary hyperoxaluria type 1 (PH1), a severe metabolic disorder caused by AGXT mutations. Lumasiran, an siRNA targeting HAO1, reduces glycolate oxidase expression and urinary oxalate levels, with sustained efficacy and acceptable tolerability in clinical trials 56. CRISPR-based approaches targeting HAO1 also demonstrate efficacy and safety in preclinical PH1 models 78. A healthy woman with complete HAO1 knockout showed elevated glycolate without clinical phenotype, de-risking therapeutic HAO1 inhibition 9. Additionally, HAO1 variants associate with aortic stenosis risk independent of coronary artery disease 10, and HAO1 protein expression associates with chr20 kidney disease progression in type 2 diabetes subtypes 11.

Sources cited
1
A healthy woman with complete HAO1 knockout showed elevated glycolate without clinical phenotype, de-risking therapeutic HAO1 inhibition .
PMID: 32207686
2
Additionally, HAO1 variants associate with aortic stenosis risk independent of coronary artery disease , and HAO1 protein expression associates with chr20 kidney disease progression in type 2 diabetes subtypes .
PMID: 39504041
3
Additionally, HAO1 variants associate with aortic stenosis risk independent of coronary artery disease , and HAO1 protein expression associates with chr20 kidney disease progression in type 2 diabetes subtypes .
PMID: 39059739
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
calcium oxalate urolithiasisOpen Targets
0.52Moderate
nephrolithiasis, calcium oxalateOpen Targets
0.52Moderate
primary hyperoxaluriaOpen Targets
0.51Moderate
primary hyperoxaluria type 1Open Targets
0.48Moderate
HyperoxaluriaOpen Targets
0.37Weak
colorectal cancerOpen Targets
0.37Weak
benign colon neoplasmOpen Targets
0.34Weak
premature birthOpen Targets
0.33Weak
polyp of colonOpen Targets
0.32Weak
malignant colon neoplasmOpen Targets
0.29Weak
colon adenocarcinomaOpen Targets
0.25Weak
cervical disc degenerative disorderOpen Targets
0.24Weak
diffuse idiopathic skeletal hyperostosisOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.22Weak
colonic neoplasmOpen Targets
0.21Weak
eye diseaseOpen Targets
0.19Weak
ocular hypotensionOpen Targets
0.19Weak
pericarditisOpen Targets
0.19Weak
polyp of large intestineOpen Targets
0.18Weak
anal neoplasmOpen Targets
0.18Weak
Pathogenic Variants1
NM_017545.3(HAO1):c.493G>T (p.Gly165Cys)Pathogenic
glycolate oxidase deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 165
View on ClinVar β†—
Drug Targets2
LUMASIRANApproved
Hydroxyacid oxidase 1 mRNA RNAi inhibitor
Hyperoxaluria
LUMASIRAN SODIUMApproved
Hydroxyacid oxidase 1 mRNA RNAi inhibitor
primary hyperoxaluria type 1
Related Genes
MGAM2Protein interaction100%HACL1Protein interaction99%PXDNLProtein interaction98%SHMT1Protein interaction96%AGXT2Protein interaction95%ALBProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
HAO1MGAM2HACL1PXDNLSHMT1AGXT2ALB
PROTEIN STRUCTURE
Preparing viewer…
PDB5QIF Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.51–1.22]
RankingsWhere HAO1 stands among ~20K protein-coding genes
  • #12,990of 20,598
    Most Researched25
  • #692of 1,025
    FDA-Approved Drug Targets2
  • #5,314of 5,498
    Most Pathogenic Variants1
  • #12,830of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedHAO1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Efficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.
PMID: 39385468
Mol Ther Β· 2025
1.00
2
Lumasiran: First Approval.
PMID: 33405070
Drugs Β· 2021
0.90
3
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease.
PMID: 39504041
JAMA Cardiol Β· 2025
0.80
4
Efficient and safe therapeutic use of paired Cas9-nickases for primary hyperoxaluria type 1.
PMID: 38182795
EMBO Mol Med Β· 2024
0.70
5
Lumasiran: A Review in Primary Hyperoxaluria Type 1.
PMID: 38252335
Drugs Β· 2024
0.60