AOX1
protein-codingaldehyde oxidase 1
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~91.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to AOX1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001159.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 7 | 5 | 14 | ||
| missense | 117 | 9 | 3 | 129 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 123 | 16 | 8 | 147 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001150.3 | 35 | MANE Select | |
| Ensembl | ENSP00000363832.2 | 35 | MANE Select | |
| Ensembl | ENSP00000260930.6 | 7 | Standard | |
| Ensembl | ENSP00000413326.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Tryptophan metabolism - Homo sapiens (human)
- Retinol metabolism - Homo sapiens (human)
- Jak-STAT signaling pathway - Homo sapiens (human)
- Nicotinate and nicotinamide metabolism - Homo sapiens (human)
- nicotine degradation III
Biological Process
- xanthine catabolic process
- drug metabolic process
- electron transport chain
- vitamin B6 metabolic process
- oxidation-reduction process
Molecular Function
- aldehyde oxidase activity
- xanthine dehydrogenase activity
- iron ion binding
- electron transfer activity
- identical protein binding
Cellular Component
- cytosol
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000374700
- Coding exons
- 35
- Length
- 91197
- Individuals with no LoFs
- 125327
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 419
- Defined
- 125748
- p
- 0.00168
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.180 | 731 | 745 | 0.981 | 0.0000392 | 8774 |
| Missense (PolyPhen) | 281 | 282.13 | 0.996 | 3379 | ||
| Synonymous | -0.120 | 274 | 271 | 1.01 | 0.0000155 | 2555 |
| Loss of Function | 2.02 | 59 | 78.3 | 0.753 | 0.00000442 | 910 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0019 | 0.0019 | notable |
| Latino/Admixed American | 0.0015 | 0.0015 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0014 | 0.0014 | notable |
| Finnish | 0.00042 | 0.00042 | rare |
| European (Non-Finnish) | 0.0021 | 0.0021 | notable |
| South Asian | 0.0018 | 0.0017 | notable |
| Other | 0.0021 | 0.0021 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N- methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis. {ECO:0000269|PubMed:20444863, ECO:0000269|PubMed:22031625, ECO:0000269|PubMed:22279051, ECO:0000269|PubMed:22522748, ECO:0000269|PubMed:22996261, ECO:0000269|PubMed:23857892, ECO:0000269|PubMed:26322824, ECO:0000269|PubMed:7786031, ECO:0000269|PubMed:9224775}.;
Recessive Scores
- pRec
- 0.401
Intolerance Scores
- LoFtool
- 0.979
- RVIS EVS
- -1.23
- RVIS percentile EVS
- 5.56
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.974
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |