ACOX1: Difference between revisions
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Revision as of 13:52, 4 September 2012
Acyl-Coenzyme A oxidase 1, palmitoyl | |||||||||||
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Identifiers | |||||||||||
Symbols | ACOX1 ; ACOX; MGC1198; PALMCOX; SCOX | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 38299 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Acyl-Coenzyme A oxidase 1, palmitoyl, also known as ACOX1, is a human gene.[1]
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.[1]
References
Further reading
- Seedorf U, Ellinghaus P, Roch Nofer J (2000). "Sterol carrier protein-2". Biochim. Biophys. Acta. 1486 (1): 45–54. PMID 10856712.
- Singh H, Brogan M, Johnson D, Poulos A (1993). "Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts". J. Lipid Res. 33 (11): 1597–605. PMID 1464743.
- Watkins PA, McGuinness MC, Raymond GV; et al. (1995). "Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies". Ann. Neurol. 38 (3): 472–7. doi:10.1002/ana.410380322. PMID 7668838.
- Chu R, Varanasi U, Chu S; et al. (1995). "Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells". J. Biol. Chem. 270 (9): 4908–15. PMID 7876265.
- Fournier B, Saudubray JM, Benichou B; et al. (1994). "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy". J. Clin. Invest. 94 (2): 526–31. PMID 8040306.
- Aoyama T, Tsushima K, Souri M; et al. (1994). "Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase". Biochem. Biophys. Res. Commun. 198 (3): 1113–8. doi:10.1006/bbrc.1994.1158. PMID 8117268.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Varanasi U, Chu R, Chu S; et al. (1994). "Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization". Proc. Natl. Acad. Sci. U.S.A. 91 (8): 3107–11. PMID 8159712.
- Pacot C, Latruffe N (1993). "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. PMID 8507686.
- Fan CY, Pan J, Chu R; et al. (1996). "Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene". J. Biol. Chem. 271 (40): 24698–710. PMID 8798738.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Fujiwara C, Imamura A, Hashiguchi N; et al. (2001). "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder". J. Biol. Chem. 275 (47): 37271–7. doi:10.1074/jbc.M006347200. PMID 10960480.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R; et al. (2001). "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. doi:10.1101/gr.154701. PMID 11230166.
- Suzuki Y, Iai M, Kamei A; et al. (2002). "Peroxisomal acyl CoA oxidase deficiency". J. Pediatr. 140 (1): 128–30. PMID 11815777.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Wiemann S, Arlt D, Huber W; et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
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