ACOX1
Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.[5][6]
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.[6]
Clinical features of ACOX1 deficiency generally include hypotonia and neonatal seizures.[7]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000161533 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020777 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK (May 1994). "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. Bibcode:1994PNAS...91.3107V. doi:10.1073/pnas.91.8.3107. PMC 43524. PMID 8159712.
- ^ a b "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl".
- ^ Masson R, Guerra S, Cerini R, Pensato V, Gellera C, Taroni F, et al. (May 2016). "Early white matter involvement in an infant carrying a novel mutation in ACOX1". European Journal of Paediatric Neurology. 20 (3): 431–434. 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
- Seedorf U, Ellinghaus P, Roch Nofer J (2000). "Sterol carrier protein-2". Biochimica et Biophysica Acta. 1486 (1): 45–54. doi:10.1016/s1388-1981(00)00047-0. PMID 10856712.
- Singh H, Brogan M, Johnson D, Poulos A (1993). "Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts". Journal of Lipid Research. 33 (11): 1597–1605. doi:10.1016/S0022-2275(20)41382-3. PMID 1464743.
- Watkins PA, McGuinness MC, Raymond GV, Hicks BA, Sisk JM, Moser AB, et al. (September 1995). "Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies". Annals of Neurology. 38 (3): 472–477. doi:10.1002/ana.410380322. PMID 7668838. S2CID 8189860.
- Chu R, Varanasi U, Chu S, Lin Y, Usuda N, Rao MS, et al. (March 1995). "Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells". The Journal of Biological Chemistry. 270 (9): 4908–4915. doi:10.1074/jbc.270.9.4908. PMID 7876265.
- Fournier B, Saudubray JM, Benichou B, Lyonnet S, Munnich A, Clevers H, et al. (August 1994). "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy". The Journal of Clinical Investigation. 94 (2): 526–531. doi:10.1172/JCI117365. PMC 296126. PMID 8040306.
- Aoyama T, Tsushima K, Souri M, Kamijo T, Suzuki Y, Shimozawa N, et al. (February 1994). "Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase". Biochemical and Biophysical Research Communications. 198 (3): 1113–1118. 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): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- 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): 235–242. doi:10.1016/0300-9084(93)90082-4. PMID 8507686.
- Fan CY, Pan J, Chu R, Lee D, Kluckman KD, Usuda N, et al. (October 1996). "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. doi:10.1074/jbc.271.40.24698. PMID 8798738.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Fujiwara C, Imamura A, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N, et al. (November 2000). "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder". The Journal of Biological Chemistry. 275 (47): 37271–37277. doi:10.1074/jbc.M006347200. PMID 10960480.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "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. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, et al. (January 2002). "Peroxisomal acyl CoA oxidase deficiency". The Journal of Pediatrics. 140 (1): 128–130. doi:10.1067/mpd.2002.120511. PMID 11815777. S2CID 36469133.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information. |
Content Disclaimer
Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.
- The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
- There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
- It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
- Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
- Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.