Entity Details

Primary name ACOX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99424
EntryNameACOX2_HUMAN
FullNamePeroxisomal acyl-coenzyme A oxidase 2
TaxID9606
Evidenceevidence at protein level
Length681
SequenceStatuscomplete
DateCreated2001-11-02
DateModified2021-06-02

Ontological Relatives

GenesACOX2

GO terms

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GOName
GO:0000038 very long-chain fatty acid metabolic process
GO:0003997 acyl-CoA oxidase activity
GO:0005504 fatty acid binding
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0006699 bile acid biosynthetic process
GO:0008104 protein localization
GO:0010942 positive regulation of cell death
GO:0016401 palmitoyl-CoA oxidase activity
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase
GO:0033791 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0050660 flavin adenine dinucleotide binding
GO:0055088 lipid homeostasis
GO:0071949 FAD binding
GO:1902884 positive regulation of response to oxidative stress

Subcellular Location

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Subcellular Location
Peroxisome

Domains

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DomainNameCategoryType
IPR002655 Acyl-CoA oxidase, C-terminalDomainDomain
IPR006091 Acyl-CoA oxidase/dehydrogenase, central domainDomainDomain
IPR009100 Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamilyFamilyHomologous superfamily
IPR012258 Acyl-CoA oxidaseFamilyFamily
IPR029320 Acyl-coenzyme A oxidase, N-terminalDomainDomain
IPR036250 Acyl-CoA dehydrogenase-like, C-terminalFamilyHomologous superfamily
IPR037069 Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617308 OMIMCongenital bile acid synthesis defect 6 (CBAS6)An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
ACOX2_HUMANDYLT1_HUMANBioGRID, IntAct32296183 details
ACOX2_HUMANPEX5_HUMANBioGRID20178365 details
ACOX2_HUMANCLK1_HUMANBioGRID26167880 details