Aldehyde oxidase 1

Aldehyde oxidase 1 is an enzyme that in humans is encoded by the AOX1 gene.

AOX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4UHW, 4UHX, 5EPG
Identifiers
Aliases	AOX1, AO, AOH1, aldehyde oxidase 1
External IDs	OMIM: 602841 MGI: 88035 HomoloGene: 68165 GeneCards: AOX1
Gene location (Human) Chr. Chromosome 2 (human) Band 2q33.1 Start 200,586,014 bp End 200,677,064 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C1.3|1 28.86 cM Start 58,069,090 bp End 58,145,572 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver body of pancreas left uterine tube germinal epithelium subcutaneous adipose tissue kidney tubule gastric mucosa kidney popliteal artery parietal pleura Top expressed in left lobe of liver brown adipose tissue soleus muscle white adipose tissue facial motor nucleus esophagus intercostal muscle subcutaneous adipose tissue right lung extraocular muscle More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity, acting on CH-OH group of donors iron-sulfur cluster binding NAD binding metal ion binding catalytic activity electron transfer activity oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors aldehyde oxidase activity iron ion binding protein homodimerization activity molybdopterin cofactor binding flavin adenine dinucleotide binding 2 iron, 2 sulfur cluster binding identical protein binding xanthine dehydrogenase activity FAD binding Cellular component extracellular exosome cytoplasm cytosol nuclear body Biological process xanthine catabolic process vitamin B6 metabolic process electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 316 11761 Ensembl ENSG00000138356 ENSMUSG00000063558 UniProt Q06278 O54754 RefSeq (mRNA) NM_001159 NM_009676 RefSeq (protein) NP_001150 NP_033806 Location (UCSC) Chr 2: 200.59 – 200.68 Mb Chr 1: 58.07 – 58.15 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide.

Clinical significance

Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis.

See also

• MOCOS

External links

• Human AOX1 genome location and AOX1 gene details page in the UCSC Genome Browser.

Further reading

• Wang AG, Yoon SY, Oh JH, et al. (2006). "Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags". Biochem. Biophys. Res. Commun. 345 (3): 1022–32. doi:10.1016/j.bbrc.2006.04.175. PMID 16712791.
• Smith MA, Marinaki AM, Arenas M, et al. (2009). "Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease". Aliment. Pharmacol. Ther. 30 (4): 375–84. doi:10.1111/j.1365-2036.2009.04057.x. PMID 19500084. S2CID 1292701.
• Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Sigruener A, Buechler C, Orsó E, et al. (2007). "Human aldehyde oxidase 1 interacts with ATP-binding cassette transporter-1 and modulates its activity in hepatocytes". Horm. Metab. Res. 39 (11): 781–9. doi:10.1055/s-2007-992129. PMID 17992631. S2CID 28460089.
• Ichida K, Matsumura T, Sakuma R, et al. (2001). "Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II". Biochem. Biophys. Res. Commun. 282 (5): 1194–200. doi:10.1006/bbrc.2001.4719. PMID 11302742.
• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Alfaro JF, Joswig-Jones CA, Ouyang W, et al. (2009). "Purification and mechanism of human aldehyde oxidase expressed in Escherichia coli". Drug Metab. Dispos. 37 (12): 2393–8. doi:10.1124/dmd.109.029520. PMC 2784701. PMID 19741035.
• Rodrigues AD (1994). "Comparison of levels of aldehyde oxidase with cytochrome P450 activities in human liver in vitro". Biochem. Pharmacol. 48 (1): 197–200. doi:10.1016/0006-2952(94)90240-2. PMID 8043023.
• Wright RM, Vaitaitis GM, Wilson CM, et al. (1993). "cDNA cloning, characterization, and tissue-specific expression of human xanthine dehydrogenase/xanthine oxidase". Proc. Natl. Acad. Sci. U.S.A. 90 (22): 10690–4. Bibcode:1993PNAS...9010690W. doi:10.1073/pnas.90.22.10690. PMC 47843. PMID 8248161.
• Buechler C, Boettcher A, Bared SM, et al. (2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex". Biochem. Biophys. Res. Commun. 293 (2): 759–65. doi:10.1016/S0006-291X(02)00303-0. PMID 12054535.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ross CJ, Katzov-Eckert H, Dubé MP, et al. (2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nat. Genet. 41 (12): 1345–9. doi:10.1038/ng.478. PMID 19898482. S2CID 21293339.