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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADH4
alcohol dehydrogenase 4 (class II), pi polypeptide
Chromosome 4 · 4q23
NCBI Gene: 127Ensembl: ENSG00000198099.10HGNC: HGNC:252UniProt: P08319
73PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
CLINICAL
Early Pipeline
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
alcohol metabolic processaldehyde metabolic processretinol metabolic processall-trans-retinol dehydrogenase (NAD+) activitysubstance-related disorderIschemic strokecoronary artery diseasevenous thromboembolism
✦AI Summary

ADH4 encodes alcohol dehydrogenase 4, a class II NAD-dependent enzyme with multiple metabolic functions. Primarily, ADH4 catalyzes oxidation of retinoids, converting all-trans-retinol and 9-cis-retinol to their aldehyde forms 1, and oxidizes long-chain omega-hydroxy fatty acids such as 20-HETE to dicarboxylic acids 2. The gene spans 21 kb with nine exons and exhibits different regulatory mechanisms compared to class I ADH genes 3. ADH4 promoter polymorphisms significantly affect gene expression, with the -75A allele showing over twofold greater promoter activity than the -75C allele 4. Clinically, ADH4 genetic variation associates with alcohol dependence and drug dependence in European Americans through recessive inheritance patterns, with SNP rs1042363 and rs1800759 showing strongest associations 56. Recent evidence identifies ADH4 as a potential prognostic biomarker in hepatocellular carcinoma, where low ADH4 expression correlates with poor outcomes and immune cell infiltration patterns, suggesting therapeutic targeting opportunities 7. However, ADH4 polymorphisms show no significant association with cluster headache susceptibility across ethnic populations 89.

Sources cited
1
ADH4 catalyzes NAD-dependent oxidation of all-trans-retinol and 9-cis-retinol
PMID: 17279314
2
ADH4 oxidizes long-chain omega-hydroxy fatty acids like 20-HETE to dicarboxylic acids
PMID: 16081420
3
ADH4 gene structure: 21 kb spanning nine exons with different regulatory mechanisms than class I genes
PMID: 1889753
4
ADH4 promoter polymorphisms affect gene expression, with -75A allele showing >2-fold activity of -75C allele
PMID: 10208639
5
ADH4 variation associates with alcohol and drug dependence in European Americans through recessive inheritance
PMID: 16237392
6
ADH4 SNPs rs1042363 and rs1126671 significantly associate with alcohol and drug dependence
PMID: 16220108
7
Low ADH4 expression is a prognostic marker in hepatocellular carcinoma with immune-related implications
PMID: 39090641
8
ADH4 polymorphisms show no significant association with cluster headache susceptibility
PMID: 35437765
9
ADH4 rs1800759 polymorphism shows no association with cluster headache in Southeastern European population
PMID: 31768945
Disease Associationsⓘ20
substance-related disorderOpen Targets
0.35Weak
Ischemic strokeOpen Targets
0.28Weak
coronary artery diseaseOpen Targets
0.27Weak
venous thromboembolismOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.12Weak
Barrett's esophagusOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Chédiak-Higashi syndromeOpen Targets
0.06Suggestive
esophageal cancerOpen Targets
0.05Suggestive
non-alcoholic steatohepatitisOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
acrocephalopolysyndactylyOpen Targets
0.03Suggestive
Cluster headacheOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
liver cancerOpen Targets
0.03Suggestive
goutOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
NITREFAZOLEUNKNOWN
Alcohol dehydrogenase inhibitor
Related Genes
ALDH1A2Protein interaction99%MAOAProtein interaction98%ALDH2Protein interaction98%MAOBProtein interaction98%ALDH1A3Protein interaction97%LRATProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ADH4ALDH1A2MAOAALDH2MAOBALDH1A3LRAT
PROTEIN STRUCTURE
Preparing viewer…
PDB3COS · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.54–1.08]
RankingsWhere ADH4 stands among ~20K protein-coding genes
  • #6,445of 20,598
    Most Researched73
  • #10,913of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedADH4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta-analysis.
PMID: 35437765
Ann Hum Genet · 2022
1.00
2
Cloning and characterization of the human ADH4 gene.
PMID: 1889753
Gene · 1991
0.90
3
ADH4 gene variation is associated with alcohol dependence and drug dependence in European Americans: results from HWD tests and case-control association studies.
PMID: 16237392
Neuropsychopharmacology · 2006
0.80
4
ADH4-a potential prognostic marker for hepatocellular carcinoma with possible immune-related implications.
PMID: 39090641
BMC Cancer · 2024
0.70
5
Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a Southeastern European Caucasian Cluster Headache Population.
PMID: 31768945
J Mol Neurosci · 2020
0.60