AOX1

Chr 2

aldehyde oxidase 1

Also known as: AO, AOH1

NCBI Gene: 316ENSG00000138356UniProt: Q06278

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

206
ClinVar variants
33
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— AOX1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 117 VUS of 206 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.94LOEUF
pLI 0.000
Z-score 2.02
OE 0.75 (0.61–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.18Z-score
OE missense 0.98 (0.92–1.04)
731 obs / 744.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.75 (0.61–0.94)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.92–1.04)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.01
0≤1.21.6
LoF obs/exp: 59 / 78.3Missense obs/exp: 731 / 744.8Syn Z: -0.12

ClinVar Variant Classifications

206 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic1
VUS117
Likely Benign17
Benign9
32
Pathogenic
1
Likely Pathogenic
117
VUS
17
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
32
0
32
Likely Pathogenic
0
0
1
0
1
VUS
0
113
4
0
117
Likely Benign
0
9
1
7
17
Benign
0
3
1
5
9
Total01253912176

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AOX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
ALDEHYDE OXIDASE 1; AOX1
MIM #602841 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Confirmation of BIK and SAMHD1 as Prostate Cancer Susceptibility Genes.
Pavlovich CP et al.·Prostate
2025
Prognostic DNA methylation markers for prostate cancer.
Strand SH et al.·Int J Mol Sci
2014Review
AOX1 and XDH Enzymes Genotyping and its Effect on Clinical Response to Azathioprine in Inflammatory Bowel Disease Patients Among Jordanian Population.
Mahasneh S et al.·Curr Drug Metab
2020Cohort
Aldehyde oxidase at the crossroad of metabolism and preclinical screening.
Cheshmazar N et al.·Drug Metab Rev
2019Review
Impact of Pharmacogenetics on Pharmacokinetics of First-Line Antituberculosis Drugs in the HIRIF Trial.
Mackay E et al.·J Infect Dis
2025
Deciphering the Transcriptional Metabolic Profile of Adipose-Derived Stem Cells During Osteogenic Differentiation and Epigenetic Drug Treatment.
Gerini G et al.·Cells
2025
Epigenetic loss of AOX1 expression via EZH2 leads to metabolic deregulations and promotes bladder cancer progression.
Vantaku V et al.·Oncogene
2020
Epigenetics regulation of prostate cancer: Biomarker and therapeutic potential.
Ragavi R et al.·Urol Oncol
2023Review
Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Mitchell J et al.·Nat Commun
2025Meta-analysis
Aldehyde oxidase mediated drug metabolism: an underpredicted obstacle in drug discovery and development.
Gajula SNR et al.·Drug Metab Rev
2022Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Retrofitting of AOX1 Promoter-Based Pichia pastoris Expression Strains for Methanol-Independent Protein Production.
Schleichert TM et al.·Methods Mol Biol
2026
Sorbitol Uptake and Oxygen Transfer Shape AOX1 Promoter Induction in Formate Dehydrogenase-Deficient Komagataella phaffii.
Bustos C et al.·Microb Biotechnol
2025🔓 Open Access
Breakthrough in Komagataella phaffii cell-free protein synthesis: AOX1 promoter drives T7-independent expression efficiently.
Zhang Y et al.·Acta Biochim Biophys Sin (Shanghai)
2025
The clock component LHY1b negatively regulates alkaline stress by repressing AOX1-mediated oxidative responses in soybean.
He J et al.·Plant Physiol
2025
G9a/DNMT1 co-targeting inhibits non-small cell lung cancer growth and reprograms tumor cells to respond to cancer-drugs through SCARA5 and AOX1.
Exposito F et al.·Cell Death Dis
2024🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools