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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACOX1
acyl-CoA oxidase 1
Chromosome 17 · 17q25.1
NCBI Gene: 51Ensembl: ENSG00000161533.13HGNC: HGNC:119UniProt: Q15067
80PubMed Papers
22Diseases
0Drugs
81Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hydrogen peroxide biosynthetic processperoxisomeprostaglandin metabolic processfatty acid catabolic processperoxisomal acyl-CoA oxidase deficiencyMitchell syndromegenetic disorderneurodegenerative disease
✦AI Summary

ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes 1. This enzyme catalyzes VLCFA oxidation and produces hydrogen peroxide as a byproduct 1. ACOX1 plays crucial roles in lipid metabolism and energy homeostasis, with hepatic expression increasing in obesity contexts 2. The enzyme functions primarily in peroxisomal fatty acid β-oxidation, contributing to cellular energy production and lipid catabolism 3. ACOX1 regulates systemic metabolism through inter-organ communication - liver-specific knockout protects mice from diet-induced obesity and insulin resistance by modulating circulating ω-3 VLCFAs that promote adipose tissue browning via GPR120 activation 2. The protein is essential for neuronal health, as both loss-of-function and gain-of-function mutations cause axonal loss through distinct mechanisms - deficiency leads to developmental defects while overactive variants (p.N237S) increase reactive oxygen species production 1. ACOX1 dysfunction is implicated in non-alcoholic fatty liver disease (NAFLD), where PFAS exposure upregulates ACOX1, leading to oxidative stress and hepatic lipid accumulation 4. Additionally, ACOX1 has emerged as a potential therapeutic target in colorectal cancer, where it contributes to nucleotide metabolism pathways affecting tumor progression 5.

Sources cited
1
ACOX1 encodes the rate-limiting enzyme of VLCFA β-oxidation in peroxisomes and produces H2O2; mutations cause axonal loss
PMID: 32169171
2
Hepatic ACOX1 regulates systemic metabolism and liver-specific knockout protects against diet-induced obesity through circulating ω-3 VLCFAs
PMID: 38760332
3
ACOX1 functions in peroxisomal fatty acid β-oxidation and contributes to energy production
PMID: 33190588
4
ACOX1 upregulation by PFAS leads to oxidative stress and hepatic lipid accumulation in NAFLD
PMID: 37572494
5
ACOX1 identified as a therapeutic target in colorectal cancer related to nucleotide metabolism
PMID: 38594466
Disease Associationsⓘ22
peroxisomal acyl-CoA oxidase deficiencyOpen Targets
0.82Strong
Mitchell syndromeOpen Targets
0.78Strong
genetic disorderOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.34Weak
Muscle weaknessOpen Targets
0.27Weak
morbid obesityOpen Targets
0.19Weak
hyperlipidemiaOpen Targets
0.16Weak
hypothyroidismOpen Targets
0.15Weak
hypertensionOpen Targets
0.13Weak
response to xenobiotic stimulusOpen Targets
0.12Weak
Loeys-Dietz syndrome 2Open Targets
0.12Weak
HypercholesterolemiaOpen Targets
0.11Weak
coronary artery diseaseOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
Increased blood pressureOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
Adrenoleukodystrophy, pseudoneonatalUniProt
Mitchell syndromeUniProt
Pathogenic Variants81
NM_004035.7(ACOX1):c.340C>T (p.Gln114Ter)Pathogenic
not provided|Acyl-CoA oxidase deficiency
★★☆☆2025→ Residue 114
NM_004035.7(ACOX1):c.1502dup (p.Asn501fs)Pathogenic
Acyl-CoA oxidase deficiency|not provided
★★☆☆2025→ Residue 501
NM_004035.7(ACOX1):c.139del (p.Gln47fs)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2025→ Residue 47
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome|Acyl-CoA oxidase deficiency;Mitchell syndrome
★★☆☆2025→ Residue 596
NM_004035.7(ACOX1):c.1729-2delLikely pathogenic
Mitchell syndrome|Acyl-CoA oxidase deficiency|Gastric cancer
★★☆☆2025
NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter)Pathogenic
Acyl-CoA oxidase deficiency
★★☆☆2025→ Residue 94
NM_004035.7(ACOX1):c.1704_1707del (p.Ser568fs)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2024→ Residue 568
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)Pathogenic
ACOX1-related disorder|Mitchell syndrome|not provided|Acyl-CoA oxidase deficiency|Inborn genetic diseases
★★☆☆2024→ Residue 237
NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs)Likely pathogenic
Acyl-CoA oxidase deficiency
★★☆☆2024→ Residue 438
NM_004035.7(ACOX1):c.538+1G>APathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome|not provided|Mitchell syndrome;Acyl-CoA oxidase deficiency
★★☆☆2024
NM_004035.7(ACOX1):c.1276_1277del (p.Val426fs)Pathogenic
Mitchell syndrome|Acyl-CoA oxidase deficiency
★★☆☆2024→ Residue 426
NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter)Pathogenic
Acyl-CoA oxidase deficiency|not provided|Acyl-CoA oxidase deficiency;Mitchell syndrome
★★☆☆2024→ Residue 148
NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter)Pathogenic
Acyl-CoA oxidase deficiency|Acyl-CoA oxidase deficiency;Mitchell syndrome
★★☆☆2024→ Residue 87
NM_004035.7(ACOX1):c.908dup (p.Tyr303Ter)Pathogenic
Mitchell syndrome|Acyl-CoA oxidase deficiency
★★☆☆2024→ Residue 303
NM_004035.7(ACOX1):c.1717del (p.Asp573fs)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2023→ Residue 573
NM_004035.7(ACOX1):c.1312del (p.Ser438fs)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2023→ Residue 438
NM_004035.7(ACOX1):c.904C>T (p.Arg302Ter)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2023→ Residue 302
NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter)Pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2022→ Residue 84
NM_004035.7(ACOX1):c.945-1G>CLikely pathogenic
Acyl-CoA oxidase deficiency|Mitchell syndrome
★★☆☆2022
NM_004035.7(ACOX1):c.1406del (p.Ala469fs)Pathogenic
Acyl-CoA oxidase deficiency
★☆☆☆2026→ Residue 469
View on ClinVar ↗
Related Genes
HADHBProtein interaction100%ACACBProtein interaction100%ACADLProtein interaction100%ACADSBProtein interaction100%ACAT1Protein interaction100%ACAT2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
40%
Heart
39%
Lung
22%
Ovary
14%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
ACOX1HADHBACACBACADLACADSBACAT1ACAT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15067
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.40–0.67]
RankingsWhere ACOX1 stands among ~20K protein-coding genes
  • #5,920of 20,598
    Most Researched80
  • #922of 5,498
    Most Pathogenic Variants81 · top quartile
  • #4,932of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedACOX1
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
PPARα/ACOX1 as a novel target for hepatic lipid metabolism disorders induced by per- and polyfluoroalkyl substances: An integrated approach.
PMID: 37572494
Environ Int · 2023
0.90
3
Dysfunction of autophagy in high-fat diet-induced non-alcoholic fatty liver disease.
PMID: 37700498
Autophagy · 2024
0.80
4
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
PMID: 32169171
Neuron · 2020
0.70
5
Liver ACOX1 regulates levels of circulating lipids that promote metabolic health through adipose remodeling.
PMID: 38760332
Nat Commun · 2024
0.60