| Attribute |
Value |
| Gene Symbol |
AOX1 |
| Full Name |
Aldehyde Oxidase 1 |
| Chromosomal Location |
2q33 |
| NCBI Gene ID |
303 |
| Ensembl ID |
ENSG00000138382 |
| UniProt ID |
Q06278 |
| Associated Diseases |
Alzheimer's disease, Parkinson's disease, Amyotrophic Lateral Sclerosis |
AOX1 encodes aldehyde oxidase, a homodimeric enzyme that catalyzes the oxidation of aldehydes into carboxylic acids. This enzyme is part of the molybdenum hydroxylase family and requires molybdenum, FAD, and iron-sulfur clusters for its activity.
- Drug Metabolism: Aldehyde oxidase is involved in the metabolism of xenobiotics, including drugs and environmental compounds
- Retinal Metabolism: Plays a role in the visual cycle by metabolizing retinaldehyde
- Reactive Oxygen Species Generation: Produces hydrogen peroxide during aldehyde oxidation, contributing to oxidative stress
AOX1 expression and activity are altered in Alzheimer's disease brains. The enzyme may contribute to amyloid-beta oxidation and neuroinflammation through its production of reactive oxygen species.
Aldehyde oxidase may play a role in PD through:
- Metabolism of dopamine oxidation products
- Generation of oxidative stress
- Possible interaction with neuromelanin
AOX1 is expressed in motor neurons and may contribute to oxidative stress in ALS. Altered aldehyde oxidase activity has been reported in ALS patients.
The enzyme's role in oxidative stress makes it relevant to various neurodegenerative conditions:
- Generates hydrogen peroxide during catalysis
- Can produce reactive aldehydes that form protein adducts
- May interact with metal homeostasis (molybdenum cofactor)
AOX1 is expressed in various tissues:
- Liver (highest expression)
- Lung
- Kidney
- Brain (lower expression)
In the brain, expression is observed in:
- Cortex
- Hippocampus
- Basal ganglia
- Garattini et al., Aldehyde oxidase: An enzyme of emerging interest in drug discovery (2009)
- Matsumoto et al., Aldehyde oxidase in the central nervous system (2008)
- Terao et al., Aldehyde oxidase: From drug metabolism to human disease (2016)
- Molybdenum cofactor (MOCOS): Required for enzyme activity
- Xanthine dehydrogenase: Related enzyme with overlapping substrates
- Cytochrome P450 enzymes: May compete for substrate metabolism
This page was created as part of the NeuroWiki gene pages project (ci015).
- Kurosaki et al., Aldehyde oxidase: role in xenobiotic metabolism and beyond (2024)
- Terao et al., Molecular regulation of aldehyde oxidase expression in human tissues (2023)
- Oyabu et al., AOX1 expression in Alzheimer's disease brain (2022)
- Valkovicova et al., Aldehyde oxidase and neurodegeneration (2022)
- Manevski et al., AOX1 drug metabolism and drug-drug interactions (2021)
- Pryor et al., Retinal metabolism by aldehyde oxidase (2020)
- Stoddard et al., Structure and function of mammalian aldehyde oxidases (2020)
- Garattini et al., Aldehyde oxidase as a therapeutic target (2019)