AOX1 Gene (Aldehyde Oxidase 1): Function, Expression, and Clinical Significance
A comprehensive biomedical overview of the AOX1 gene, including genomic context, protein function, tissue expression, mutations, and disease associations.
Gene Information Card
| Symbol | AOX1 |
|---|---|
| Full Name | Aldehyde Oxidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 316 ncbi.nlm.nih.gov/gene/316 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q06278 |
| OMIM ID | 602841 |
| HGNC ID | 544 |
| Aliases | AO, AOX, hAOX |
Description
The AOX1 gene encodes aldehyde oxidase 1, a cytosolic enzyme belonging to the xanthine oxidase family. It contains molybdenum cofactor, FAD, and iron-sulfur clusters, and plays a key role in the oxidative metabolism of various aldehydes and nitrogenous heterocyclic compounds, including drugs and xenobiotics. AOX1 is involved in the production of reactive oxygen species and may influence oxidative stress and drug toxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Potential involvement in oxidative stress and motor neuron degeneration; AOX1 expression altered in ALS models. | PubMed: 25971929 |
| Cancer (various) | AOX1 expression is downregulated in some tumors, suggesting a role in tumor suppression; may affect drug metabolism in cancer therapy. | PubMed: 25620004 |
| Drug-induced toxicity | AOX1 metabolizes drugs like zaleplon and methotrexate, leading to reactive metabolites and potential hepatotoxicity. | PubMed: 24361935 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | High | High |
| Adrenal gland | Medium | Medium |
| Kidney | Medium | Medium |
| Lung | Low | Low |
| Small intestine | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | High | Liver hepatocellular carcinoma cell line |
| A549 | Low | Lung carcinoma cell line |
| Caco-2 | Low | Colorectal adenocarcinoma cell line |
| MCF7 | Low | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | Rare | Reduced enzyme activity |
| c.1339G>A (p.Ala447Thr) | Missense | Rare | Altered substrate specificity |
| c.2410C>T (p.Arg804Cys) | Missense | Rare | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish AOX1 enzymatic activity, potentially leading to altered drug metabolism and increased toxicity.
Gain of Function (GOF)
No clear gain-of-function mutations reported; increased activity may be due to regulatory variants.
Dominant Negative (DN)
No evidence for dominant-negative effects; AOX1 functions as a homodimer, but mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • aldehyde oxidase activity | • molybdenum ion binding |
| • FAD binding | • 2 iron |
| • 2 sulfur cluster binding | • xanthine dehydrogenase activity |
| • oxidation-reduction process | • xenobiotic metabolic process |
Pathways
• Drug metabolism - cytochrome P450
• Metabolic pathways
• Caffeine metabolism
• Retinol metabolism
Protein Summary
Aldehyde oxidase 1 (AOX1) is a 150 kDa cytosolic enzyme that catalyzes the oxidation of aldehydes and nitrogenous heterocycles. It is a homodimer, each subunit containing a molybdenum cofactor, FAD, and two iron-sulfur clusters. AOX1 is highly expressed in the liver and plays a significant role in phase I drug metabolism, often complementing cytochrome P450 enzymes. It also generates reactive oxygen species, contributing to oxidative stress. Its expression is regulated by various nuclear receptors and is downregulated in some cancers, suggesting a potential tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AOX1 Knockout HEK293 Cell Line | EDJ-KQ450 | Human | 316 | Details Get a Quote |
| AOX1 Knockout A-549 Cell Line | EDJ-KQ18753 | Human | 316 | Details Get a Quote |
| AOX1 Knockout HeLa Cell Line | EDJ-KQ18754 | Human | 316 | Details Get a Quote |
| AOX1 Knockout HCT 116 Cell Line | EDJ-KQ69585 | Human | 316 | Details Get a Quote |
