ACOX1
From Wikipedia, the free encyclopedia
Acyl-Coenzyme A oxidase 1, palmitoyl
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Identifiers | ||||||||||||||
Symbol(s) | ACOX1; ACOX; MGC1198; PALMCOX; SCOX | |||||||||||||
External IDs | OMIM: 609751 MGI: 1330812 HomoloGene: 38299 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 51 | 11430 | ||||||||||||
Ensembl | ENSG00000161533 | ENSMUSG00000020777 | ||||||||||||
Uniprot | Q15067 | Q9R0H0 | ||||||||||||
Refseq | NM_004035 (mRNA) NP_004026 (protein) |
NM_015729 (mRNA) NP_056544 (protein) |
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Location | Chr 17: 71.45 - 71.49 Mb | Chr 11: 115.99 - 116.02 Mb | ||||||||||||
Pubmed search | [1] | [2] |
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]
[edit] References
[edit] 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: . 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: . 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: . 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: . 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: . 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: . 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: . 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: . PMID 15489336.