Biology:ACOX1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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.

See also

• ACOX3
• Acyl-CoA oxidase

External links

• Human ACOX1 genome location and ACOX1 gene details page in the UCSC Genome Browser.

Further reading

• "Sterol carrier protein-2.". Biochim. Biophys. Acta 1486 (1): 45–54. 2000. doi:10.1016/s1388-1981(00)00047-0. PMID 10856712. 
• "Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts.". J. Lipid Res. 33 (11): 1597–605. 1993. doi:10.1016/S0022-2275(20)41382-3. PMID 1464743. 
• "Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies.". Ann. Neurol. 38 (3): 472–7. 1995. doi:10.1002/ana.410380322. PMID 7668838. 
• "Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells.". J. Biol. Chem. 270 (9): 4908–15. 1995. doi:10.1074/jbc.270.9.4908. PMID 7876265. 
• "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.". J. Clin. Invest. 94 (2): 526–31. 1994. doi:10.1172/JCI117365. PMID 8040306. 
• "Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase.". Biochem. Biophys. Res. Commun. 198 (3): 1113–8. 1994. doi:10.1006/bbrc.1994.1158. PMID 8117268. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "Biochemical properties of liver peroxisomes from rat, guinea pig and human species and the influence of hormonal status on rat liver acyl-CoA oxidase mRNA content". Biochimie 75 (3–4): 235–42. 1993. doi:10.1016/0300-9084(93)90082-4. PMID 8507686. 
• "Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene". J. Biol. Chem. 271 (40): 24698–710. 1996. doi:10.1074/jbc.271.40.24698. PMID 8798738. 
• "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder". J. Biol. Chem. 275 (47): 37271–7. 2001. doi:10.1074/jbc.M006347200. PMID 10960480. 
• "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863. 
• "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. 2001. doi:10.1101/gr.GR1547R. PMID 11230166. 
• "Peroxisomal acyl CoA oxidase deficiency". J. Pediatr. 140 (1): 128–30. 2002. doi:10.1067/mpd.2002.120511. PMID 11815777. 
• "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.