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
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.

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.

Clinical features of ACOX1 deficiency generally include hypotonia and neonatal seizures.