ADH1B (Alcohol Dehydrogenase 1B) Gene
Genetic insights into alcohol metabolism, disease susceptibility, and pharmacogenomics
Gene Information Card
| Symbol | ADH1B |
|---|---|
| Full Name | Alcohol Dehydrogenase 1B (class I), beta polypeptide |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 125 ncbi.nlm.nih.gov/gene/125 |
| Ensembl ID | ENSG00000196616 |
| UniProt ID | P00325 |
| OMIM ID | 103720 |
| HGNC ID | 250 |
| Aliases | ADH2, alcohol dehydrogenase 2, class I, beta polypeptide |
Description
The ADH1B gene encodes the beta subunit of class I alcohol dehydrogenase, a key enzyme in the oxidative metabolism of ethanol and other alcohols. It catalyzes the conversion of alcohol to acetaldehyde, a rate-limiting step in alcohol metabolism. Genetic variants in ADH1B affect enzyme activity and are associated with differential alcohol tolerance, risk of alcoholism, and various diseases including cancer and liver disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol Dependence | ADH1B variants (e.g., rs1229984, Arg48His) increase acetaldehyde accumulation, leading to adverse reactions and reduced risk of alcohol dependence. | ClinVar, OMIM |
| Alcohol-Induced Liver Disease | Fast-metabolizing variants increase acetaldehyde toxicity, promoting liver damage and cirrhosis. | NCBI, OMIM |
| Esophageal Cancer | ADH1B high-activity variants increase acetaldehyde exposure, elevating risk of esophageal squamous cell carcinoma. | COSMIC, ClinVar |
| Head and Neck Cancer | Similar mechanism as esophageal cancer; acetaldehyde is a carcinogen. | COSMIC, NCBI |
| Parkinson's Disease | Some studies suggest protective effects of certain ADH1B variants, but evidence is inconclusive. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | High (nTPM ~200) | Highest expression; primary site of alcohol metabolism |
| Kidney | Low (nTPM ~10) | Moderate expression |
| Stomach | Low (nTPM ~5) | Low expression |
| Lung | Low (nTPM ~3) | Low expression |
| Brain | Low (nTPM ~1) | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | High | Liver cancer cell line; high ADH1B expression |
| A549 | Low | Lung carcinoma; low expression |
| MCF7 | Low | Breast cancer; low expression |
| K562 | Low | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1229984 (Arg48His) | SNP (missense) | Allele frequency: ~30-40% in East Asians, <5% in Europeans | Increases enzyme activity (high Vmax), leading to faster acetaldehyde production |
| rs2066702 (Arg370Cys) | SNP (missense) | Allele frequency: ~10-20% in Africans, rare in others | Reduces enzyme activity, slower alcohol metabolism |
| rs1041969 (Arg272Gln) | SNP (missense) | Rare | Alters enzyme kinetics, reduced activity |
Mutation functional classification
Loss of Function (LOF)
Variants like Arg370Cys reduce catalytic efficiency, leading to slower acetaldehyde clearance and increased alcohol sensitivity.
Gain of Function (GOF)
Variants like Arg48His increase enzyme activity, causing rapid acetaldehyde accumulation and protective effects against alcohol dependence.
Dominant Negative (DN)
No dominant-negative effects reported for ADH1B.
View complete mutation data：
Gene Ontology (GO)
| • alcohol dehydrogenase activity | • zinc ion binding |
| • oxidoreductase activity | • ethanol binding |
| • NAD binding | • cytoplasm |
| • cytosol |
Pathways
• Alcohol metabolism
• Ethanol oxidation
• Retinol metabolism
• Fatty acid biosynthesis
Protein Summary
The ADH1B protein is a cytosolic enzyme that forms homo- and heterodimers with other class I ADH subunits. It contains a zinc-binding domain and a NAD-binding domain. The enzyme plays a central role in ethanol metabolism, converting ethanol to acetaldehyde. Its activity is influenced by genetic polymorphisms, affecting individual alcohol tolerance and disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADH1B Knockout HEK293 Cell Line | EDJ-KQ2706 | Human | 125 | Details Get a Quote |
| ADH1B Knockout HeLa Cell Line | EDJ-KQ52557 | Human | 125 | Details Get a Quote |
| ADH1B Knockout A-549 Cell Line | EDJ-KQ61038 | Human | 125 | Details Get a Quote |
| ADH1B Knockout HCT 116 Cell Line | EDJ-KQ69515 | Human | 125 | Details Get a Quote |
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