Biology:ACOX1
From HandWiki
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.[1][2]
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.[2]
Clinical features of ACOX1 deficiency generally include hypotonia and neonatal seizures.[3]
See also
References
- ↑ "Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization". Proceedings of the National Academy of Sciences of the United States of America 91 (8): 3107–3111. May 1994. doi:10.1073/pnas.91.8.3107. PMID 8159712. Bibcode: 1994PNAS...91.3107V.
- ↑ 2.0 2.1 "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=51.
- ↑ "Early white matter involvement in an infant carrying a novel mutation in ACOX1". European Journal of Paediatric Neurology 20 (3): 431–434. May 2016. doi:10.1016/j.ejpn.2016.02.007. PMID 26965209.
External links
- Human ACOX1 genome location and ACOX1 gene details page in the UCSC Genome Browser.
Further reading
- "Sterol carrier protein-2.". Biochimica et Biophysica 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.". Journal of Lipid Research 33 (11): 1597–1605. 1993. doi:10.1016/S0022-2275(20)41382-3. PMID 1464743.
- "Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies". Annals of Neurology 38 (3): 472–477. September 1995. doi:10.1002/ana.410380322. PMID 7668838.
- "Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells". The Journal of Biological Chemistry 270 (9): 4908–4915. March 1995. doi:10.1074/jbc.270.9.4908. PMID 7876265.
- "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy". The Journal of Clinical Investigation 94 (2): 526–531. August 1994. doi:10.1172/JCI117365. PMID 8040306.
- "Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase". Biochemical and Biophysical Research Communications 198 (3): 1113–1118. February 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): 171–174. 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): 235–242. 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". The Journal of Biological Chemistry 271 (40): 24698–24710. October 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): 149–156. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder". The Journal of Biological Chemistry 275 (47): 37271–37277. November 2000. doi:10.1074/jbc.M006347200. PMID 10960480.
- "DNA cloning using in vitro site-specific recombination". Genome Research 10 (11): 1788–1795. 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 Research 11 (3): 422–435. March 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- "Peroxisomal acyl CoA oxidase deficiency". The Journal of Pediatrics 140 (1): 128–130. January 2002. doi:10.1067/mpd.2002.120511. PMID 11815777.
- "From ORFeome to biology: a functional genomics pipeline". Genome Research 14 (10B): 2136–2144. October 2004. doi:10.1101/gr.2576704. PMID 15489336.
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