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About: ACOX1     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:Unit109465459, within Data Space : dbpedia.org associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneyago:Abstraction100002137yago:Chemical114806838yago:Compound114818238yago:Macromolecule114944888yago:Material114580897yago:Matter100020827yago:Molecule114682133yago:OrganicCompound114727670yago:Part113809207yago:PhysicalEntity100001930yago:Protein114728724yago:Relation100031921yago:WikicatHumanProteinsHumanGeneproteinyago:Substance100019613yago:Thing100002452yago:Unit109465459 New Facet based on Instances of this Class

Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the 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.