ACOX1

ACOX1
Identifiers
Aliases	ACOX1, ACOX, PALMCOX, SCOX, acyl-CoA oxidase 1, palmitoyl, acyl-CoA oxidase 1, MITCH
External IDs	OMIM: 609751; MGI: 1330812; HomoloGene: 38299; GeneCards: ACOX1; OMA:ACOX1 - orthologs
Enzyme activity
Gene location (Human)
Chr.	Chromosome 17 (human)
End	75,979,177 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	116,089,871 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; buccal mucosa cell; ; duodenum; ; mucosa of transverse colon; ; liver; ; right lobe of liver; ; internal globus pallidus; ; oral cavity; ; mucosa of ileum; ; rectum;
	Top expressed in
	left lobe of liver; ; right kidney; ; proximal tubule; ; human kidney; ; tunica adventitia of aorta; ; brown adipose tissue; ; pyloric antrum; ; epithelium of stomach; ; jejunum; ; white adipose tissue;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	signaling receptor binding; PDZ domain binding; palmitoyl-CoA oxidase activity; protein N-terminus binding; oxidoreductase activity; oxidoreductase activity, acting on the CH-CH group of donors; acyl-CoA oxidase activity; FAD binding; acyl-CoA dehydrogenase activity; flavin adenine dinucleotide binding; fatty acid binding;
Cellular component	nucleolus; nucleoplasm; cytoplasm; mitochondrion; nucleus; peroxisomal membrane; intracellular membrane-bounded organelle; peroxisome; membrane; peroxisomal matrix; plasma membrane; cytosol;
Biological process	spermatogenesis; generation of precursor metabolites and energy; lipid metabolism; fatty acid beta-oxidation; alpha-linolenic acid metabolic process; metabolism; peroxisome fission; fatty acid metabolic process; very long-chain fatty acid metabolic process; prostaglandin metabolic process; lipid homeostasis; fatty acid oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; regulation of lipid metabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; protein targeting to peroxisome;
	Sources:Amigo / QuickGO
Orthologs
	51
	11430
	ENSG00000161533
	ENSMUSG00000020777
	Q15067
	Q9R0H0
	NM_001185039; NM_004035; NM_007292
	NM_001271898; NM_015729; NM_001377521; NM_001377522
	NP_001171968; NP_004026; NP_009223
	NP_001258827; NP_056544; NP_001364450; NP_001364451
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000161533 – Ensembl, May 2017
1 2 3 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.
1 2 "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.

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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000161533 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020777 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Varanasi_1994-5] 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.

[entrez-6] 1 2 "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl".

[7] 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.

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ACOX1

See also

References

External links

Further reading