ACOX1

Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.^[5][6]

AliasesACOX1, ACOX, PALMCOX, SCOX, acyl-CoA oxidase 1, palmitoyl, acyl-CoA oxidase 1, MITCH

External IDsOMIM: 609751; MGI: 1330812; HomoloGene: 38299; GeneCards: ACOX1; OMA:ACOX1 - orthologs

Chr.Chromosome 17 (human)^[1]

End75,979,177 bp^[1]

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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
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.1 Start 75,941,507 bp[1] End 75,979,177 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 116,062,714 bp[2] End 116,089,871 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 51 11430 Ensembl ENSG00000161533 ENSMUSG00000020777 UniProt Q15067 Q9R0H0 RefSeq (mRNA) NM_001185039 NM_004035 NM_007292 NM_001271898 NM_015729 NM_001377521 NM_001377522 RefSeq (protein) NP_001171968 NP_004026 NP_009223 NP_001258827 NP_056544 NP_001364450 NP_001364451 Location (UCSC) Chr 17: 75.94 – 75.98 Mb Chr 11: 116.06 – 116.09 Mb PubMed search [3] [4]
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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]