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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADHFE1
alcohol dehydrogenase iron containing 1
Chromosome 8 · 8q13.1
NCBI Gene: 137872Ensembl: ENSG00000147576.18HGNC: HGNC:16354UniProt: Q8IWW8
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionketone body catabolic processhydroxyacid-oxoacid transhydrogenase activityalcohol dehydrogenase (NAD+) activityrenal osteodystrophypost term pregnancypremature birthcolorectal carcinoma
✦AI Summary

ADHFE1 (alcohol dehydrogenase iron containing 1) is a mitochondrial enzyme that catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde coupled to reduction of 2-ketoglutarate to D-2-hydroxyglutarate (D-2-HG) 1. The enzyme represents the first characterized iron-activated alcohol dehydrogenase in humans, showing homology to microbial iron-activated alcohol dehydrogenases rather than other human alcohol dehydrogenases 2. ADHFE1 plays critical roles in development and cellular differentiation, regulating Hox gene expression during embryonic trunk patterning by modulating retinoic acid levels through retinaldehyde reduction 3. In colorectal cancer, ADHFE1 functions as a differentiation marker, with normal expression highest in mature crypt epithelium and downregulation associated with cancer progression through promoter hypermethylation 4. Conversely, ADHFE1 acts as an oncogene in breast cancer, where MYC upregulates its expression, leading to D-2-HG accumulation and metabolic reprogramming that promotes tumor growth 1. ADHFE1 methylation status serves as a biomarker for colorectal cancer screening 5 and gastric cardia cancer diagnosis 6. The dual role of ADHFE1 as both tumor suppressor and oncogene highlights its tissue-specific functions in cancer development and progression.

Sources cited
1
ADHFE1 is an iron-activated alcohol dehydrogenase homologous to microbial enzymes
PMID: 12592711
2
ADHFE1 functions as a differentiation marker in colorectal cancer with promoter hypermethylation causing downregulation
PMID: 23517143
3
ADHFE1 methylation serves as a biomarker for colorectal cancer screening
PMID: 40307680
4
ADHFE1 regulates Hox gene expression during embryonic development by modulating retinoic acid levels
PMID: 28621427
5
ADHFE1 acts as a breast cancer oncogene producing D-2-hydroxyglutarate and is upregulated by MYC
PMID: 29202474
6
ADHFE1 methylation contributes to gastric cardia cancer risk with decreased expression in tumors
PMID: 36342849
Disease Associationsⓘ20
renal osteodystrophyOpen Targets
0.31Weak
post term pregnancyOpen Targets
0.23Weak
premature birthOpen Targets
0.15Weak
colorectal carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
nail-patella syndromeOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.04Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
adenomaOpen Targets
0.02Suggestive
glioblastomaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
L2HGDHShared pathway100%GPT2Shared pathway100%NDUFS8Protein interaction96%HSDL2Protein interaction89%SORDProtein interaction87%DERAProtein interaction87%
Tissue Expression6 tissues
Liver
100%
Ovary
40%
Heart
21%
Lung
13%
Brain
12%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
ADHFE1L2HGDHGPT2NDUFS8HSDL2SORDDERA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IWW8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.55–0.97]
RankingsWhere ADHFE1 stands among ~20K protein-coding genes
  • #14,350of 20,598
    Most Researched19
  • #9,160of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedADHFE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cloning and characterization of a novel human alcohol dehydrogenase gene (ADHFe1).
PMID: 12592711
DNA Seq · 2002
1.00
2
Alcohol dehydrogenase, iron containing, 1 promoter hypermethylation associated with colorectal cancer differentiation.
PMID: 23517143
BMC Cancer · 2013
0.90
3
Analysis of the effect of fecal SDC2, ADHFE1 and PPP2R5C gene methylation test for screening colorectal cancer in the Otog Front Banner.
PMID: 40307680
BMC Gastroenterol · 2025
0.80
4
ADHFe1: a novel enzyme involved in retinoic acid-dependent Hox activation.
PMID: 28621427
Int J Dev Biol · 2017
0.70
5
ADHFE1 is a breast cancer oncogene and induces metabolic reprogramming.
PMID: 29202474
J Clin Invest · 2018
0.60