AOX1
Chr 2aldehyde oxidase 1
Also known as: AO, AOH1
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]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 2.02
OE 0.75 (0.61–0.94)
Typical tolerance to LoF variation
Missense Constraint?
0.18Z-score
OE missense 0.98 (0.92–1.04)
731 obs / 744.8 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.75 (0.61–0.94)
0≤0.351.4
Missense OE?0.98 (0.92–1.04)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 59 / 78.3Missense obs/exp: 731 / 744.8Syn Z: -0.12
ClinVar Variant Classifications
0 submitted variants 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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools