ADH7: Alcohol Dehydrogenase 7 (Class IV), Mu or Sigma Subunit
ADH7 Gene - Alcohol Metabolism and Retinoid Oxidation
Gene Information Card
| Symbol | ADH7 |
|---|---|
| Full Name | Alcohol Dehydrogenase 7 (Class IV), Mu or Sigma Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 131 ncbi.nlm.nih.gov/gene/131 |
| Ensembl ID | ENSG00000196344 |
| UniProt ID | P40394 |
| OMIM ID | 600086 |
| HGNC ID | 260 |
| Aliases | ADH-4, ADH4, sigma-ADH, class IV ADH |
Description
ADH7 encodes a member of the alcohol dehydrogenase (ADH) family, specifically class IV (mu or sigma). This enzyme is a homodimer that catalyzes the oxidation of ethanol and other primary alcohols, as well as the oxidation of retinol (vitamin A) to retinaldehyde, a key step in retinoid metabolism. ADH7 is highly expressed in the stomach and esophagus, contributing to first-pass metabolism of ethanol. It also plays a role in the synthesis of retinoic acid, which is critical for growth and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alcohol Dependence | Variants in ADH7 alter ethanol oxidation rate, influencing alcohol metabolism and risk of dependence. | ClinVar, NCBI |
| Fetal Alcohol Syndrome | Impaired retinol oxidation due to ADH7 dysfunction may disrupt retinoic acid signaling during development. | OMIM, NCBI |
| Gastric Cancer | Altered ADH7 expression in gastric mucosa may affect local ethanol metabolism and carcinogenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 89.5 | High |
| Esophagus | 72.3 | High |
| Liver | 4.2 | Low |
| Kidney | 2.1 | Low |
| Skin | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric cancer) | 95.2 | High expression |
| HepG2 (hepatocellular) | 3.8 | Low expression |
| A549 (lung) | 1.5 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1154469 (Arg48His) | Missense | 0.15 (global) | Reduced enzyme activity; altered ethanol metabolism |
| rs284787 (Val276Ile) | Missense | 0.08 (global) | Moderate effect on retinol oxidation |
| rs4148882 (intronic) | Intronic | 0.22 (global) | Associated with alcohol dependence |
Mutation functional classification
Loss of Function (LOF)
rs1154469 (Arg48His) reduces catalytic efficiency for ethanol and retinol.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for ADH7.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004022 - alcohol dehydrogenase (NAD+) activity | • GO:0004745 - retinol dehydrogenase activity |
| • GO:0006069 - ethanol oxidation | • GO:0001523 - retinoid metabolic process |
| • GO:0005737 - cytoplasm |
Pathways
• Ethanol oxidation pathway (Reactome: R-HSA-71311)
• Retinol metabolism (KEGG: hsa00830)
• Metabolism of vitamins and cofactors (Reactome: R-HSA-196854)
Protein Summary
ADH7 encodes the class IV alcohol dehydrogenase (sigma-ADH), a 40 kDa homodimeric enzyme. It is primarily expressed in the upper gastrointestinal tract (stomach, esophagus) and skin. The enzyme uses NAD+ as a cofactor to oxidize ethanol and retinol. Its high Km for ethanol makes it efficient at high alcohol concentrations, contributing to first-pass metabolism. In retinoid metabolism, ADH7 converts retinol to retinaldehyde, which is further oxidized to retinoic acid, a regulator of gene expression in development and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADH7 Knockout HEK293 Cell Line | EDJ-KQ3532 | Human | 131 | Details Get a Quote |
| ADH7 Knockout HeLa Cell Line | EDJ-KQ52561 | Human | 131 | Details Get a Quote |
| ADH7 Knockout A-549 Cell Line | EDJ-KQ61042 | Human | 131 | Details Get a Quote |
| ADH7 Knockout HCT 116 Cell Line | EDJ-KQ69519 | Human | 131 | Details Get a Quote |
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