ADH1C (Alcohol Dehydrogenase 1C) Gene
Genetic Insights into Alcohol Metabolism and Disease Susceptibility
Gene Information Card
| Symbol | ADH1C |
|---|---|
| Full Name | Alcohol Dehydrogenase 1C (class I), gamma polypeptide |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 126 ncbi.nlm.nih.gov/gene/126 |
| Ensembl ID | ENSG00000248144 |
| UniProt ID | P00326 |
| OMIM ID | 103730 |
| HGNC ID | 252 |
| Aliases | ADH3, alcohol dehydrogenase 3, class I gamma polypeptide |
Description
The ADH1C gene encodes the gamma subunit of class I alcohol dehydrogenase, a key enzyme in the oxidative metabolism of ethanol and other alcohols. It is primarily expressed in the liver and plays a central role in the conversion of ethanol to acetaldehyde, a toxic intermediate. Genetic variations in ADH1C influence alcohol metabolism rates and have been associated with susceptibility to alcoholism, alcohol-induced liver disease, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol Dependence | Polymorphisms (e.g., Ile350Val) alter enzyme activity, affecting acetaldehyde accumulation and drinking behavior. | ClinVar, OMIM |
| Alcoholic Liver Disease | Variants with higher activity lead to increased acetaldehyde, promoting oxidative stress and liver damage. | NCBI Gene, OMIM |
| Esophageal Cancer | Fast-metabolizing variants increase acetaldehyde exposure, a carcinogen, elevating risk in drinkers. | ClinVar, COSMIC |
| Gastric Cancer | Similar mechanism as esophageal cancer; acetaldehyde-induced DNA damage. | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 100.0 | High |
| Kidney | 20.0 | Medium |
| Stomach | 15.0 | Medium |
| Lung | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 80.0 | Liver cancer cell line |
| A549 | 10.0 | Lung carcinoma |
| MCF7 | 5.0 | Breast cancer |
| HeLa | 3.0 | Cervical cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Ile350Val (rs698) | SNP | ~40% in Europeans | Reduces enzyme activity, leading to slower acetaldehyde clearance. |
| Arg272Gln (rs1693482) | SNP | ~30% in East Asians | Alters substrate specificity and activity. |
| -17C>T (rs1229984) | Promoter SNP | ~5% globally | Affects gene expression, lower transcription. |
Mutation functional classification
Loss of Function (LOF)
Variants like Ile350Val reduce catalytic efficiency, leading to decreased acetaldehyde production.
Gain of Function (GOF)
Rare variants with increased activity may enhance acetaldehyde accumulation, increasing toxicity risk.
Dominant Negative (DN)
No evidence for dominant-negative effects; ADH1C functions as a dimer, but no such mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • alcohol dehydrogenase activity | • zinc ion binding |
| • oxidoreductase activity | • ethanol metabolic process |
| • retinol metabolic process |
Pathways
• Ethanol degradation
• Retinol metabolism
• Glycolysis and gluconeogenesis (related to NADH production)
Protein Summary
The ADH1C protein is a class I alcohol dehydrogenase, forming homo- or heterodimers with other subunits (ADH1A, ADH1B). It catalyzes the reversible oxidation of ethanol to acetaldehyde using NAD+ as a cofactor. The enzyme is highly expressed in the liver and also participates in the metabolism of retinol, steroids, and lipid peroxidation products. Its activity is zinc-dependent and pH-sensitive.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADH1C Knockout HEK293 Cell Line | EDJ-KQ4011 | Human | 126 | Details Get a Quote |
| ADH1C Knockout HeLa Cell Line | EDJ-KQ52558 | Human | 126 | Details Get a Quote |
| ADH1C Knockout A-549 Cell Line | EDJ-KQ61039 | Human | 126 | Details Get a Quote |
| ADH1C Knockout HCT 116 Cell Line | EDJ-KQ69516 | Human | 126 | Details Get a Quote |
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