ALDH2 Gene: Aldehyde Dehydrogenase 2 Family (Mitochondrial)
Key enzyme in alcohol metabolism and acetaldehyde detoxification; associated with alcohol sensitivity, cancer risk, and cardiovascular disease.
Gene Information Card
| Symbol | ALDH2 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 2 Family (Mitochondrial) |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.12 |
| NCBI Gene ID | 217 ncbi.nlm.nih.gov/gene/217 |
| Ensembl ID | ENSG00000111275 |
| UniProt ID | P05091 |
| OMIM ID | 100650 |
| HGNC ID | 406 |
| Aliases | ALDH2, ALDH-E2, ALDHI, ALDM |
Description
The ALDH2 gene encodes the mitochondrial aldehyde dehydrogenase 2 enzyme, which catalyzes the oxidation of acetaldehyde to acetate, a critical step in alcohol metabolism. This enzyme is also involved in the detoxification of other reactive aldehydes, including lipid peroxidation products. A common genetic variant (rs671) results in an inactive enzyme, leading to acetaldehyde accumulation and the 'Asian flush' reaction, and is associated with increased risk of certain cancers and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol sensitivity (Asian flush) | Loss-of-function variant (rs671) reduces acetaldehyde clearance, causing flushing and adverse reactions. | ClinVar, OMIM |
| Esophageal squamous cell carcinoma | Accumulation of acetaldehyde, a carcinogen, due to ALDH2 deficiency increases cancer risk, especially with alcohol consumption. | COSMIC, ClinVar, OMIM |
| Coronary artery disease | ALDH2 deficiency may increase oxidative stress and impair aldehyde detoxification, contributing to endothelial dysfunction. | ClinVar, OMIM |
| Alcoholic liver disease | Reduced ALDH2 activity leads to acetaldehyde-induced liver damage and inflammation. | OMIM, ClinVar |
| Alzheimer's disease | ALDH2 dysfunction may increase 4-hydroxynonenal (4-HNE) levels, promoting neurodegeneration. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 80.2 | High |
| Kidney | 20.5 | Medium |
| Heart | 15.3 | Medium |
| Lung | 10.1 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.3 | Liver cancer cell line, high expression |
| A549 | 12.4 | Lung carcinoma, moderate expression |
| MCF7 | 8.7 | Breast cancer, low expression |
| K562 | 3.2 | Leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs671 (Glu504Lys) | Missense | ~40% in East Asians, rare in other populations | Inactivates enzyme, leading to acetaldehyde accumulation and alcohol intolerance. |
| rs886205 (Glu487Lys) | Missense | Rare | Also reduces enzyme activity, similar to rs671. |
| c.1510G>A (p.Glu504Lys) | Missense | Common in East Asians | Dominant negative effect, causes ALDH2 deficiency. |
Mutation functional classification
Loss of Function (LOF)
The rs671 variant results in a catalytically inactive enzyme, leading to reduced acetaldehyde metabolism.
Gain of Function (GOF)
No gain-of-function mutations are reported for ALDH2.
Dominant Negative (DN)
The rs671 allele exerts a dominant negative effect, as the mutant subunit can dimerize with the wild-type subunit and impair overall enzyme activity.
View complete mutation data：
Gene Ontology (GO)
| • aldehyde dehydrogenase (NAD+) activity | • acetaldehyde dehydrogenase activity |
| • oxidoreductase activity | • mitochondrial matrix |
| • response to ethanol | • cellular response to oxidative stress |
Pathways
• Alcohol metabolism
• Acetaldehyde degradation
• Fatty acid oxidation
• Glycolysis (aldehyde metabolism)
• Ethanol oxidation pathway
Protein Summary
The ALDH2 protein is a tetrameric mitochondrial enzyme that catalyzes the oxidation of acetaldehyde to acetate using NAD+ as a cofactor. It plays a crucial role in alcohol metabolism and detoxification of reactive aldehydes. The enzyme is highly expressed in the liver and also present in other tissues. The common rs671 polymorphism leads to an inactive enzyme, causing acetaldehyde accumulation and associated health risks.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH2 Knockout HEK293 Cell Line | EDJ-KQ12328 | Human | 217 | Details Get a Quote |
| ALDH2 Knockout A-549 Cell Line | EDJ-KQ41173 | Human | 217 | Details Get a Quote |
| ALDH2 Knockout HCT 116 Cell Line | EDJ-KQ41174 | Human | 217 | Details Get a Quote |
| ALDH2 Knockout HeLa Cell Line | EDJ-KQ41175 | Human | 217 | Details Get a Quote |
| ALDH2 Knockout Hep-G2 Cell Line | EDJ-KZ536 | Human | 217 | Details Get a Quote |
| Aldh2 Knockout Neuro-2a Cell Line | EDJ-KZ537 | Mouse | 11669 | Details Get a Quote |
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