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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
  • EC 1.3.3.6 4 61
  • 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
  • PALMCOX 3

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 Peroxisome and Fatty acid metabolism. GO annotations related to this gene include 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

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

Genomics for ACOX1 Gene

Regulatory Elements for ACOX1 Gene

Enhancers for ACOX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G075975 1.4 ENCODE dbSUPER 12.4 -0.8 -761 10.1 MLX CREB3L1 ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 UBE2O H3F3B ACOX1 UNK ENSG00000267342 CDK3 NT5C TEN1 FBF1 METTL23
GH17G075969 1.2 Ensembl ENCODE 12.2 +9.2 9210 1.7 ATF1 CREB3L1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS NCOA1 REST UNK CDK3 ENSG00000267342 ACOX1 ENSG00000267801 TRIM65 NUP85 NT5C TEN1-CDK3 TEN1
GH17G076002 1.5 Ensembl ENCODE dbSUPER 9.7 -25.0 -25033 3.5 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 TCF12 SLC30A9 ZNF143 TEN1 ACOX1 CDK3 TRIM65 PIR42105
GH17G075852 1.7 FANTOM5 ENCODE dbSUPER 6.3 +124.6 124551 4.1 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TRIM65 SUMO2 FBF1 TRIM47 ENSG00000267342 H3F3B ACOX1 EVPL UNC13D WBP2
GH17G075958 0.8 ENCODE 12 +19.7 19655 1.9 CTCF PKNOX1 TFAP4 FOXA2 ATF1 SAP130 ARID4B ZNF2 RAD21 GATA3 CDK3 EVPL ACOX1 MRPL38 EXOC7 AANAT UBE2O ENSG00000267615 TEN1-CDK3 TEN1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACOX1 on UCSC Golden Path with GeneCards custom track

Promoters for ACOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098484 334 2601 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1

Genomic Location for ACOX1 Gene

Chromosome:
17
Start:
75,941,507 bp from pter
End:
75,979,434 bp from pter
Size:
37,928 bases
Orientation:
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:
    Q15067-ACOX1_HUMAN
    Recommended name:
    Peroxisomal acyl-coenzyme A oxidase 1
    Protein Accession:
    Q15067
    Secondary Accessions:
    • A8K6X8
    • A8KAA0
    • B4DK61
    • F5GYQ8
    • Q12863
    • Q15068
    • Q15101
    • Q16131
    • Q7Z3W5
    • Q9UD31

    Protein attributes for ACOX1 Gene

    Size:
    660 amino acids
    Molecular mass:
    74424 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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).
    SequenceCaution:
    • Sequence=CAD97622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ACOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACOX1 Gene

Selected DME Specific Peptides for ACOX1 Gene

Q15067:
  • VSYLNDLPSQRIQPQQVAVWPT
  • NKLTYGTMVF
  • CTFEGENTVMMLQTARFLMK
  • LTEAYKLRAARLVEIAAKNLQ
  • ACGGHGYSHCSG
  • DPDFQHE
  • RYSAVRHQSEI
  • QTQQYKLFPLLATAYAFQFVGAYMKETY
  • GLETTAT
  • TRRRREIEN
  • DNGYLKMDN

Post-translational modifications for ACOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACOX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15067

UniProtKB/Swiss-Prot:

ACOX1_HUMAN :
  • Belongs to the acyl-CoA oxidase family.
Family:
  • Belongs to the acyl-CoA oxidase family.
genes like me logo Genes that share domains with ACOX1: view

No data available for Gene Families for ACOX1 Gene

Function for ACOX1 Gene

Molecular function for ACOX1 Gene

GENATLAS Biochemistry:
acyl-CoA oxidase,peroxisomal matrix,medium or long chain,catalyzing the first step of peroxisomal fatty acid beta-oxidation
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};
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2).
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.

Enzyme Numbers (IUBMB) 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 IEA --
GO:0003997 acyl-CoA oxidase activity TAS --
GO:0005102 receptor binding IPI 20178365
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors 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

Inhibitory RNA 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

Peroxisome.

Subcellular locations from

COMPARTMENTS
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 1

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

(23) 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
(3R)-3-HYDROXYDODECANOIC ACID Experimental Pharma Target 0
myristoyl-coa Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
(2E)-Decenoyl-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
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (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
10018-94-7
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

Inhibitory RNA 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
ACOX1
ECgene alternative splicing isoforms for
ACOX1

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, PaxDb, MaxQB, and MOPED for ACOX1 Gene



Protein tissue co-expression partners for ACOX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACOX1 Gene:

ACOX1

SOURCE GeneReport for Unigene cluster for ACOX1 Gene:

Hs.464137

mRNA Expression by UniProt/SwissProt for ACOX1 Gene:

Q15067-ACOX1_HUMAN
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)
  • Eye(4.2)
  • Intestine(4.2)
  • Lung(2.6)
  • Kidney(2.2)

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

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ACOX1 34 35
  • 99.55 (n)
oppossum
(Monodelphis domestica)
Mammalia ACOX1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACOX1 34 35
  • 91.16 (n)
cow
(Bos Taurus)
Mammalia ACOX1 34 35
  • 89.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acox1 34
  • 85.56 (n)
mouse
(Mus musculus)
Mammalia Acox1 34 16 35
  • 81.06 (n)
chicken
(Gallus gallus)
Aves ACOX1 34 35
  • 73.43 (n)
lizard
(Anolis carolinensis)
Reptilia ACOX1 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acox1 34
  • 66.26 (n)
zebrafish
(Danio rerio)
Actinopterygii acox1 34 35
  • 67.02 (n)
wufb59h12 34
fruit fly
(Drosophila melanogaster)
Insecta CG5009 34 35
  • 52.54 (n)
BcDNA:GH07485 36
  • 43 (a)
Acox57D-p 36 35
  • 38 (a)
CG4586 36 35
  • 38 (a)
Acox57D-d 36 35
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011798 34
  • 51.82 (n)
worm
(Caenorhabditis elegans)
Secernentea acox-1 34 35
  • 52.38 (n)
F25C8.1 36
  • 46 (a)
F08A8.1 36
  • 43 (a)
F08A8.3 36 35
  • 42 (a)
F08A8.4 36 35
  • 42 (a)
F59F4.1 36 35
  • 42 (a)
F08A8.2 36 35
  • 40 (a)
C48B4.1 36 35
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POX1 35 37
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACX1 34
  • 51.84 (n)
soybean
(Glycine max)
eudicotyledons Gma.8460 34
rice
(Oryza sativa)
Liliopsida Os06g0103500 34
  • 52.75 (n)
Os.9192 34
wheat
(Triticum aestivum)
Liliopsida Ta.27205 34
corn
(Zea mays)
Liliopsida Zm.4993 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6819 35
  • 54 (a)
OneToMany
CSA.11092 35
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4108 34
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

ENSEMBL:
Gene Tree for ACOX1 (if available)
TreeFam:
Gene Tree for ACOX1 (if available)

Paralogs for ACOX1 Gene

Paralogs for ACOX1 Gene

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

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 Sequence Context AA Info Type
rs118204090 Pathogenic, Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] 75,953,563(-) GGACC(A/G)TGGTG reference, missense
rs118204091 Pathogenic, Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] 75,957,465(-) GGCCT(A/G/T)GTGGG reference, missense
rs118204092 Pathogenic, Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] 75,953,469(-) GCACC(A/G)GTCTG reference, missense
rs758962364 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] 75,953,467(+) TTCAG(A/G)CTGGT reference, missense
rs780887410 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] 75,955,935(+) GATTT(A/G)AAGTC reference, missense

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)

Relevant External Links for ACOX1 Gene

Human Gene Mutation Database (HGMD)
ACOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOX1

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

Disorders for ACOX1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
peroxisomal acyl-coa oxidase deficiency
  • peroxisomal acyl-coenzyme a oxidase
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
chondrodysplasia punctata, rhizomelic, type 1
  • rhizomelic chondrodysplasia punctata, type 1
anoxia
- elite association - COSMIC cancer census association via MalaCards
Search ACOX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACOX1_HUMAN
  • 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.

Relevant External Links for ACOX1

Genetic Association Database (GAD)
ACOX1
Human Genome Epidemiology (HuGE) Navigator
ACOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACOX1
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 J.K. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform. (PMID: 20195242) Vluggens A. … Cherkaoui-Malki M. (Lab. Invest. 2010) 3 4 22 64
  3. Clinical, biochemical, and mutational spectrum of peroxisomal acyl- coenzyme A oxidase deficiency. (PMID: 17458872) Ferdinandusse S. … Waterham H.R. (Hum. Mutat. 2007) 3 4 22 64
  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. (Biochem. Biophys. Res. Commun. 2007) 3 4 22 64
  5. Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells. (PMID: 7876265) Chu R. … Reddy J.K. (J. Biol. Chem. 1995) 3 4 22 64

Products for ACOX1 Gene

Sources for ACOX1 Gene

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