DAO Gene (D-Amino Acid Oxidase)
Key enzyme in D-amino acid metabolism and neurological function
Gene Information Card
| Symbol | DAO |
|---|---|
| Full Name | D-Amino Acid Oxidase |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 1610 ncbi.nlm.nih.gov/gene/1610 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | P14920 |
| OMIM ID | 124050 |
| HGNC ID | 2671 |
| Aliases | DAAO, DAMOX, DAO1 |
Description
The DAO gene encodes D-amino acid oxidase, a peroxisomal enzyme that catalyzes the oxidative deamination of D-amino acids, particularly D-serine, a co-agonist of the NMDA receptor. DAO plays a critical role in regulating D-serine levels in the brain, influencing glutamatergic neurotransmission. Genetic variants in DAO have been associated with schizophrenia, amyotrophic lateral sclerosis (ALS), and other neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | DAO variants may alter D-serine metabolism, leading to NMDA receptor hypofunction | PMID: 12508194, ClinVar |
| Amyotrophic Lateral Sclerosis (ALS) | DAO mutations cause loss of enzyme activity, contributing to motor neuron degeneration | PMID: 20877624, OMIM |
| D-Amino Acid Oxidase Deficiency | Loss-of-function mutations result in elevated D-serine levels and neurological symptoms | OMIM #124050 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Brain (cerebellum) | 5.2 | Low |
| Brain (cortex) | 3.1 | Low |
| Testis | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.1 | Moderate expression |
| SH-SY5Y | 2.8 | Low expression |
| HepG2 | 6.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R199W | Missense | <0.1% | Loss of enzyme activity |
| R199Q | Missense | <0.1% | Reduced catalytic efficiency |
| T182M | Missense | <0.1% | Impaired peroxisomal targeting |
| c.1000C>T | Nonsense | <0.1% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
R199W, T182M, and nonsense variants reduce or abolish D-amino acid oxidase activity, leading to elevated D-serine.
Gain of Function (GOF)
Not reported for DAO.
Dominant Negative (DN)
Not reported for DAO.
View complete mutation data：
Gene Ontology (GO)
| • D-amino-acid oxidase activity | • FAD binding |
| • peroxisome | • D-serine metabolic process |
| • oxidation-reduction process |
Pathways
• D-amino acid metabolism
• Glycine
• serine and threonine metabolism (KEGG: hsa00260)
• NMDA receptor signaling (indirect)
Protein Summary
D-amino acid oxidase (DAO) is a 347-amino acid flavoprotein localized to peroxisomes. It contains a non-covalently bound FAD cofactor and catalyzes the oxidative deamination of neutral and basic D-amino acids, producing corresponding α-keto acids, ammonia, and hydrogen peroxide. In the central nervous system, DAO primarily degrades D-serine, a key modulator of NMDA receptor function. Altered DAO activity is implicated in glutamatergic dysfunction underlying schizophrenia and motor neuron degeneration in ALS.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAO Knockout HEK293 Cell Line | EDJ-KQ4419 | Human | 1610 | Details Get a Quote |
| DAOA Knockout HEK293 Cell Line | EDJ-KQ13093 | Human | 267012 | Details Get a Quote |
| DAO Knockout HeLa Cell Line | EDJ-KQ53068 | Human | 1610 | Details Get a Quote |
| DAOA Knockout HeLa Cell Line | EDJ-KQ59359 | Human | 267012 | Details Get a Quote |
| DAO Knockout A-549 Cell Line | EDJ-KQ61533 | Human | 1610 | Details Get a Quote |
| DAOA Knockout A-549 Cell Line | EDJ-KQ67821 | Human | 267012 | Details Get a Quote |
| DAO Knockout HCT 116 Cell Line | EDJ-KQ70026 | Human | 1610 | Details Get a Quote |
| DAOA Knockout HCT 116 Cell Line | EDJ-KQ76205 | Human | 267012 | Details Get a Quote |
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