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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EHHADH
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Chromosome 3 · 3q27.2
NCBI Gene: 1962Ensembl: ENSG00000113790.12HGNC: HGNC:3247UniProt: Q08426
51PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingfatty acid beta-oxidationperoxisomelong-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activityprimary Fanconi syndromeFanconi renotubular syndrome 1d-bifunctional protein deficiencyinsomnia
✦AI Summary

EHHADH is a peroxisomal trifunctional enzyme catalyzing critical steps in fatty acid beta-oxidation, including enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase activities 1. It processes long-chain and branched-chain fatty acids through peroxisomal beta-oxidation and regulates medium-chain dicarboxylic fatty acid levels, which are essential regulators of all fatty acid oxidation pathways 2. EHHADH expression is positively regulated by acetylation during metabolic fuel availability, activating its oxidative function 1, and by PPARα signaling and its upstream regulator PPARGC1A 3. Clinically, EHHADH dysfunction is associated with Fanconi renotubular syndrome 3 and proximal tubular acidosis resulting from bicarbonate wasting 4. In cancer contexts, dysregulated EHHADH expression shows opposite patterns: elevated levels promote osteosarcoma and lung squamous cell carcinoma proliferation through altered lipid metabolism 52, while downregulation in hepatocellular carcinoma—associated with TP53 mutations and loss of VHL function—correlates with ferroptosis escape and hepatocyte dedifferentiation 67. In metabolic disease, EHHADH activation ameliorates diet-induced fatty liver through enhanced long-chain fatty acid oxidation 3.

Sources cited
1
Lysine acetylation activates EHHADH (enoyl-coenzyme A hydratase/3-hydroxyacyl-coenzyme A dehydrogenase) in fatty acid oxidation pathways
PMID: 20167786
2
EHHADH regulates medium-chain fatty acid metabolism in lung squamous cell carcinoma and promotes cell proliferation through altered lipid metabolism
PMID: 40450155
3
lncRNA Gm35585 activates EHHADH transcription via PPARα signaling to promote peroxisomal β-oxidation of long-chain fatty acids and alleviate diet-induced fatty liver
PMID: 40082671
4
EHHADH mutations cause proximal renal tubular acidosis through generalized proximal tubule dysfunction affecting bicarbonate handling and ammoniagenesis
PMID: 31300090
5
EHHADH overexpression promotes osteosarcoma proliferation and predicts poor survival; knockdown suppresses tumor cell proliferation
PMID: 33997049
6
EHHADH expression is downregulated in hepatocellular carcinoma via TP53-mediated suppression of PPARGC1A, correlating with ferroptosis escape and hepatocyte dedifferentiation
PMID: 37313808
7
EHHADH expression is VHL-dependent; downregulation in clear cell renal cell carcinoma may result from VHL loss of function
PMID: 38304003
Disease Associationsⓘ21
primary Fanconi syndromeOpen Targets
0.52Moderate
Fanconi renotubular syndrome 1Open Targets
0.40Moderate
d-bifunctional protein deficiencyOpen Targets
0.37Weak
insomniaOpen Targets
0.31Weak
cardiac arrestOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.27Weak
metabolic acidosisOpen Targets
0.23Weak
chronic kidney diseaseOpen Targets
0.15Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
Romano-Ward syndromeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.06Suggestive
Familial short QT syndromeOpen Targets
0.06Suggestive
Brugada syndromeOpen Targets
0.06Suggestive
familial atrial fibrillationOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
Fanconi renotubular syndrome 3UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACADSBProtein interaction98%ACAA2Protein interaction98%ACADVLProtein interaction98%ACADLProtein interaction98%ECI2Protein interaction97%HADHBProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Heart
9%
Brain
2%
Bone Marrow
1%
Lung
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
EHHADHACADSBACAA2ACADVLACADLECI2HADHB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q08426
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.51–0.87]
RankingsWhere EHHADH stands among ~20K protein-coding genes
  • #8,666of 20,598
    Most Researched51
  • #7,712of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedEHHADH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
PMID: 33190588
Autophagy · 2021
1.00
2
Regulation of cellular metabolism by protein lysine acetylation.
PMID: 20167786
Science · 2010
0.90
3
Increased EHHADH Expression Predicting Poor Survival of Osteosarcoma by Integrating Weighted Gene Coexpression Network Analysis and Experimental Validation.
PMID: 33997049
Biomed Res Int · 2021
0.80
4
Lipidomics reveals effect of EHHADH in lung squamous cell.
PMID: 40450155
Cell Biol Toxicol · 2025
0.70
5
LncRNA Gm35585 transcriptionally activates the peroxidase EHHADH against diet-induced fatty liver.
PMID: 40082671
Exp Mol Med · 2025
0.60