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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]
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 Linoleic acid metabolism and beta-Alanine metabolism (KEGG). 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003997 | acyl-CoA oxidase activity | IBA,IMP | 7876265 |
GO:0005504 | fatty acid binding | IBA | 21873635 |
GO:0016401 | palmitoyl-CoA oxidase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016627 | oxidoreductase activity, acting on the CH-CH group of donors | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005777 | peroxisome | IBA,IDA | 7876265 |
GO:0005778 | peroxisomal membrane | IEA | -- |
GO:0005782 | peroxisomal matrix | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000038 | very long-chain fatty acid metabolic process | IBA,IMP | 18536048 |
GO:0006091 | generation of precursor metabolites and energy | IMP | 7876265 |
GO:0006625 | protein targeting to peroxisome | TAS | -- |
GO:0006629 | lipid metabolic process | IEA,IDA | 8117268 |
GO:0006631 | fatty acid metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
FAD | Approved | Pharma | Target | 0 | ||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Vayarin | Approved, Investigational | Pharma | Enzyme, substrate | 0 | ||
Hydrogen peroxide | Approved, Vet_approved | Pharma | 115 | |||
(3R)-3-HYDROXYDODECANOIC ACID | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 | ||||
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
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: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACOX1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ACOX1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACOX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACOX1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Acox1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Acox1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ACOX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACOX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acox1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | acox1 30 31 |
|
OneToOne | |
wufb59h12 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5009 30 31 |
|
ManyToMany | |
BcDNA:GH07485 32 |
|
|
|||
CG4586 31 32 |
|
ManyToMany | |||
Acox57D-p 31 32 |
|
ManyToMany | |||
Acox57D-d 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011798 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | acox-1 30 31 |
|
ManyToMany | |
F25C8.1 32 |
|
|
|||
F08A8.1 32 |
|
|
|||
F08A8.4 31 32 |
|
ManyToMany | |||
F59F4.1 31 32 |
|
ManyToMany | |||
F08A8.2 31 32 |
|
ManyToMany | |||
F08A8.3 31 32 |
|
ManyToMany | |||
C48B4.1 31 32 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | POX1 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACX1 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.8460 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os06g0103500 30 |
|
||
Os.9192 30 |
|
||||
Wheat (Triticum aestivum) |
Liliopsida | Ta.27205 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.4993 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6819 31 |
|
OneToMany | |
CSA.11092 31 |
|
OneToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4108 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635861 | Likely Pathogenic: Muscle weakness | 75,948,458(-) | C/T | SPLICE_ACCEPTOR_VARIANT | |
656515 | Pathogenic: Peroxisomal acyl-CoA oxidase deficiency | 75,949,227(-) | TC/T | FRAMESHIFT_VARIANT | |
707829 | Likely Benign: Peroxisomal acyl-CoA oxidase deficiency | 75,957,500(-) | T/C | MISSENSE_VARIANT | |
712810 | Benign: Peroxisomal acyl-CoA oxidase deficiency | 75,949,894(-) | G/A | SYNONYMOUS_VARIANT | |
719015 | Likely Benign: Peroxisomal acyl-CoA oxidase deficiency | 75,948,430(-) | T/C | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
peroxisomal acyl-coa oxidase deficiency |
|
|
adrenoleukodystrophy |
|
|
d-bifunctional protein deficiency |
|
|
rhizomelic chondrodysplasia punctata, type 1 |
|
|
zellweger syndrome |
|