Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACOX1 Gene

Aliases for ACOX1 Gene

  • Acyl-CoA Oxidase 1 2 3 5
  • Palmitoyl-CoA Oxidase 2 3 4
  • Acyl-Coenzyme A Oxidase 1, Palmitoyl 2 3
  • Straight-Chain Acyl-CoA Oxidase 3 4
  • Acyl-CoA Oxidase 1, Palmitoyl 2 3
  • ACOX 3 4
  • SCOX 3 4
  • AOX 3 4
  • Peroxisomal Acyl-Coenzyme A Oxidase 1 3
  • Peroxisomal Fatty Acyl-CoA Oxidase 3
  • Acyl-CoA Oxidase, Straight-Chain 3
  • EC 4

External Ids for ACOX1 Gene

Previous GeneCards Identifiers for ACOX1 Gene

  • GC17P073433
  • GC17M076968
  • GC17M074401
  • GC17M074538
  • GC17M071453
  • GC17M073937
  • GC17M069363

Summaries for ACOX1 Gene

Entrez Gene Summary for ACOX1 Gene

  • The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACOX1 Gene

ACOX1 (Acyl-CoA Oxidase 1) is a Protein Coding gene. Diseases associated with ACOX1 include Peroxisomal Acyl-Coa Oxidase Deficiency and Adrenoleukodystrophy. Among its related pathways are Peroxisomal lipid metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein N-terminus binding. An important paralog of this gene is ACOX2.

UniProtKB/Swiss-Prot for ACOX1 Gene

  • Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.

Gene Wiki entry for ACOX1 Gene

Additional gene information for ACOX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACOX1 Gene

Genomics for ACOX1 Gene

GeneHancer (GH) Regulatory Elements for ACOX1 Gene

Promoters and enhancers for ACOX1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J075975 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 662.4 -0.8 -760 10.1 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 ACOX1 CDK3 TEN1 TEN1-CDK3 METTL23 SRSF2 MFSD11 UBE2O H3F3B UNK
GH17J075999 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 650.3 -21.1 -21086 1.3 HDGF FOXA2 ARID4B ZNF2 ZNF48 RAD21 RARA ETS1 GLIS2 HSF1 CDK3 ACOX1 TEN1 MFSD11 ENSG00000266980 METTL23 TEN1-CDK3
GH17J075852 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.3 +124.6 124550 4.1 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 WBP2 UNK TRIM65 ENSG00000267342 SRSF2 MFSD11 FBF1 CDK3 TRIM47 ENSG00000266980
GH17J076002 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.7 -25.0 -25032 3.5 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS SP3 TEN1 MFSD11 ENSG00000266980 METTL23 ACOX1 CDK3 TRIM65 PIR42105 EVPL TEN1-CDK3
GH17J075969 Enhancer 1.1 Ensembl ENCODE 12.2 +9.2 9209 1.7 SMAD1 ATF1 ARNT TCF12 ZNF766 GATA2 E2F8 ATF7 NCOA1 REST ACOX1 TSEN54 ARMC7 CDK3 TEN1 TEN1-CDK3 ENSG00000267615
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACOX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACOX1 gene promoter:
  • AML1a
  • GATA-1
  • PPAR-gamma2
  • PPAR-gamma1
  • Egr-2
  • Gfi-1
  • En-1
  • PPAR-alpha
  • CRE-BP1

Genomic Locations for ACOX1 Gene

Genomic Locations for ACOX1 Gene
37,928 bases
Minus strand
37,928 bases
Minus strand

Genomic View for ACOX1 Gene

Genes around ACOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOX1 Gene

Proteins for ACOX1 Gene

  • Protein details for ACOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peroxisomal acyl-coenzyme A oxidase 1
    Protein Accession:
    Secondary Accessions:
    • A8K6X8
    • A8KAA0
    • B4DK61
    • F5GYQ8
    • Q12863
    • Q15068
    • Q15101
    • Q16131
    • Q7Z3W5
    • Q9UD31

    Protein attributes for ACOX1 Gene

    660 amino acids
    Molecular mass:
    74424 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer (By similarity). Interacts with LONP2 (PubMed:18281296).
    • Isoform 1 and isoform 2 can reverse the Acox1 null phenotype in mouse which is characterized by severe microvesicular hepatic steatosis, sustained activation of Ppara, spontaneous massive peroxisome proliferation and eventual development of hepatocellular carcinomas. Isoform 2 is more effective in reversal of the phenotype than isoform 1 (PubMed:20195242).
    • Sequence=CAD97622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ACOX1 Gene


neXtProt entry for ACOX1 Gene

Post-translational modifications for ACOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACOX1 Gene

Domains & Families for ACOX1 Gene

Gene Families for ACOX1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the acyl-CoA oxidase family.
  • Belongs to the acyl-CoA oxidase family.
genes like me logo Genes that share domains with ACOX1: view

Function for ACOX1 Gene

Molecular function for ACOX1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=73 uM for palmitoyl-CoA (isoform 1) {ECO:0000269 PubMed:17603022}; KM=90 uM for palmitoyl-CoA (isoform 2) {ECO:0000269 PubMed:17603022}; pH dependence: Optimum pH is 8.5 for isoform 1 and 7.5-8.5 for isoform 2. {ECO:0000269 PubMed:17603022}; Temperature dependence: Optimum temperature for isoform 1 at pH 7.5 is 40 degrees Celsius with no activity at 50 degrees Celsius. Optimum temperature for isoform 2 at pH 7.5 is 47.5 degrees Celsius with 57% activity retained at 50 degrees Celsius. {ECO:0000269 PubMed:17603022};
GENATLAS Biochemistry:
acyl-CoA oxidase,peroxisomal matrix,medium or long chain,catalyzing the first step of peroxisomal fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACOX1 Gene

Phenotypes From GWAS Catalog for ACOX1 Gene

Gene Ontology (GO) - Molecular Function for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IBA --
GO:0003997 acyl-CoA oxidase activity TAS --
GO:0005102 signaling receptor binding IPI 20178365
GO:0016401 palmitoyl-CoA oxidase activity IBA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ACOX1: view
genes like me logo Genes that share phenotypes with ACOX1: view

Human Phenotype Ontology for ACOX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACOX1 Gene

MGI Knock Outs for ACOX1:

Animal Model Products

CRISPR Products

miRNA for ACOX1 Gene

miRTarBase miRNAs that target ACOX1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ACOX1 Gene

Localization for ACOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOX1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACOX1 gene
Compartment Confidence
plasma membrane 5
peroxisome 5
nucleus 5
mitochondrion 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ACOX1: view

Pathways & Interactions for ACOX1 Gene

genes like me logo Genes that share pathways with ACOX1: view

UniProtKB/Swiss-Prot Q15067-ACOX1_HUMAN

  • Pathway: Lipid metabolism; peroxisomal fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IMP 18536048
GO:0006091 generation of precursor metabolites and energy IMP 7876265
GO:0006629 lipid metabolic process IDA,IEA 8117268
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA --
genes like me logo Genes that share ontologies with ACOX1: view

No data available for SIGNOR curated interactions for ACOX1 Gene

Drugs & Compounds for ACOX1 Gene

(25) Drugs for ACOX1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Oxygen Approved, Vet_approved Pharma 0
Hydrogen peroxide Approved, Vet_approved Pharma 73
(3R)-3-HYDROXYDODECANOIC ACID Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma 0

(62) Additional Compounds for ACOX1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
genes like me logo Genes that share compounds with ACOX1: view

Transcripts for ACOX1 Gene

Unigene Clusters for ACOX1 Gene

Acyl-CoA oxidase 1, palmitoyl:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACOX1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16
SP1: - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - -

Relevant External Links for ACOX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACOX1 Gene

Protein differential expression in normal tissues from HIPED for ACOX1 Gene

This gene is overexpressed in Cervix (12.1), Liver (7.7), Peripheral blood mononuclear cells (7.6), and Fetal Liver (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACOX1 Gene

Protein tissue co-expression partners for ACOX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACOX1 Gene:


SOURCE GeneReport for Unigene cluster for ACOX1 Gene:


mRNA Expression by UniProt/SwissProt for ACOX1 Gene:

Tissue specificity: Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1 is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain, lung, muscle, white adipose tissue and testis. Levels are almost equal in heart.

Evidence on tissue expression from TISSUES for ACOX1 Gene

  • Liver(4.7)
  • Nervous system(4.7)
  • Intestine(4.3)
  • Eye(4.2)
  • Lung(2.6)
  • Kidney(2.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • breast
  • esophagus
  • lung
  • liver
  • stomach
  • foot
  • lower limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ACOX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ACOX1 Gene

Orthologs for ACOX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACOX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACOX1 34 33
  • 99.55 (n)
(Monodelphis domestica)
Mammalia ACOX1 34
  • 92 (a)
(Canis familiaris)
Mammalia ACOX1 34 33
  • 91.16 (n)
(Bos Taurus)
Mammalia ACOX1 34 33
  • 89.65 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
-- 34
  • 83 (a)
(Rattus norvegicus)
Mammalia Acox1 33
  • 85.56 (n)
(Mus musculus)
Mammalia Acox1 16 34 33
  • 81.06 (n)
(Gallus gallus)
Aves ACOX1 34 33
  • 73.43 (n)
(Anolis carolinensis)
Reptilia ACOX1 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acox1 33
  • 66.26 (n)
(Danio rerio)
Actinopterygii acox1 34 33
  • 67.02 (n)
wufb59h12 33
fruit fly
(Drosophila melanogaster)
Insecta CG5009 34 33
  • 52.54 (n)
BcDNA:GH07485 35
  • 43 (a)
CG4586 34 35
  • 38 (a)
Acox57D-p 34 35
  • 37 (a)
Acox57D-d 34 35
  • 36 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011798 33
  • 51.82 (n)
(Caenorhabditis elegans)
Secernentea acox-1 34 33
  • 52.38 (n)
F25C8.1 35
  • 46 (a)
F08A8.1 35
  • 43 (a)
F08A8.4 34 35
  • 42 (a)
F59F4.1 34 35
  • 42 (a)
F08A8.2 34 35
  • 42 (a)
F08A8.3 34 35
  • 42 (a)
C48B4.1 34 35
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POX1 36 34
  • 26 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACX1 33
  • 51.84 (n)
(Glycine max)
eudicotyledons Gma.8460 33
(Oryza sativa)
Liliopsida Os06g0103500 33
  • 52.75 (n)
Os.9192 33
(Triticum aestivum)
Liliopsida Ta.27205 33
(Zea mays)
Liliopsida Zm.4993 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6819 34
  • 54 (a)
CSA.11092 34
  • 43 (a)
Cin.4108 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4108 33
Species where no ortholog for ACOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACOX1 Gene

Gene Tree for ACOX1 (if available)
Gene Tree for ACOX1 (if available)
Evolutionary constrained regions (ECRs) for ACOX1: view image

Paralogs for ACOX1 Gene

Paralogs for ACOX1 Gene

(3) SIMAP similar genes for ACOX1 Gene using alignment to 7 proteins:

  • I3L0T4_HUMAN
  • I3L2U4_HUMAN
  • I3L4S5_HUMAN
genes like me logo Genes that share paralogs with ACOX1: view

Variants for ACOX1 Gene

Sequence variations from dbSNP and Humsavar for ACOX1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1038411995 uncertain-significance, Pseudoneonatal adrenoleukodystrophy 75,945,314(-) G/A 3_prime_UTR_variant
rs1045508892 uncertain-significance, Pseudoneonatal adrenoleukodystrophy 75,945,368(-) A/G 3_prime_UTR_variant
rs1057921 uncertain-significance, Pseudoneonatal adrenoleukodystrophy 75,946,094(-) T/C 3_prime_UTR_variant
rs112541815 uncertain-significance, Pseudoneonatal adrenoleukodystrophy 75,942,498(-) A/C 3_prime_UTR_variant
rs1135640 benign, not specified, Pseudoneonatal adrenoleukodystrophy 75,953,459(-) G/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ACOX1 Gene

Variant ID Type Subtype PubMed ID
esv2671149 CNV deletion 23128226
esv3641270 CNV gain 21293372
esv3641271 CNV gain 21293372
esv3641272 CNV loss 21293372
nsv833545 CNV gain 17160897

Variation tolerance for ACOX1 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACOX1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOX1 Gene

Disorders for ACOX1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACOX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisomal acyl-coa oxidase deficiency
  • straight-chain acyl-coa oxidase deficiency
  • sudanophilic cerebral sclerosis
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
- elite association - COSMIC cancer census association via MalaCards
Search ACOX1 in MalaCards View complete list of genes associated with diseases


  • Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]: A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. {ECO:0000269 PubMed:11815777, ECO:0000269 PubMed:17458872, ECO:0000269 PubMed:8040306}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACOX1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACOX1: view

No data available for Genatlas for ACOX1 Gene

Publications for ACOX1 Gene

  1. Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization. (PMID: 8159712) Varanasi U … Reddy JK (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22 58
  2. Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform [corrected]. (PMID: 20195242) Vluggens A … Cherkaoui-Malki M (Laboratory investigation; a journal of technical methods and pathology 2010) 3 4 22 58
  3. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. (PMID: 17458872) Ferdinandusse S … Waterham HR (Human mutation 2007) 3 4 22 58
  4. Biochemical characterization of two functional human liver acyl-CoA oxidase isoforms 1a and 1b encoded by a single gene. (PMID: 17603022) Oaxaca-Castillo D … Cherkaoui-Malki M (Biochemical and biophysical research communications 2007) 3 4 22 58
  5. Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells. (PMID: 7876265) Chu R … Reddy JK (The Journal of biological chemistry 1995) 3 4 22 58

Products for ACOX1 Gene

Sources for ACOX1 Gene

Loading form....