ACOX1 - acyl-CoA oxidase 1 Gene

Also Known as AOX; ACOX; SCOX; MITCH; PALMCOX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51

About ACOX1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,941,507-75,979,166 (from NCBI)

This gene has 13 transcripts (splice variants), 214 orthologues, 14 paralogues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 40.5), duodenum (RPKM 21.7) and 25 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

ACOX1 Products (3)

mRNA	Protein	Name
NM_001185039.2	NP_001171968.1	peroxisomal acyl-coenzyme A oxidase 1 isoform c
NM_004035.7	NP_004026.2	peroxisomal acyl-coenzyme A oxidase 1 isoform a
NM_007292.6	NP_009223.2	peroxisomal acyl-coenzyme A oxidase 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables FAD binding	IDA IDA: Inferred from direct assay	17603022	GOA
enables PDZ domain binding	IDA IDA: Inferred from direct assay	23209302	GOA
enables acyl-CoA oxidase activity	IDA IDA: Inferred from direct assay	8117268	GOA
enables acyl-CoA oxidase activity	IGI IGI: Inferred from genetic interaction	17458872	GOA
enables acyl-CoA oxidase activity	IMP IMP: Inferred from mutant phenotype	7876265	GOA
enables palmitoyl-CoA oxidase activity	IDA IDA: Inferred from direct assay	17603022	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18281296	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	32169171	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cholesterol homeostasis	IGI IGI: Inferred from genetic interaction	20195242	GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase	IMP IMP: Inferred from mutant phenotype	18536048	GOA
involved in fatty acid catabolic process	IMP IMP: Inferred from mutant phenotype	32169171	GOA
involved in fatty acid oxidation	IGI IGI: Inferred from genetic interaction	20195242	GOA
involved in fatty acid oxidation	IMP IMP: Inferred from mutant phenotype	7876265	GOA
involved in generation of precursor metabolites and energy	IMP IMP: Inferred from mutant phenotype	7876265	GOA
involved in hydrogen peroxide biosynthetic process	IMP IMP: Inferred from mutant phenotype	32169171	GOA
involved in lipid homeostasis	IDA IDA: Inferred from direct assay	20195242	GOA
involved in lipid homeostasis	IGI IGI: Inferred from genetic interaction	20195242	GOA
involved in lipid metabolic process	IDA IDA: Inferred from direct assay	8117268	GOA
involved in peroxisome fission	IGI IGI: Inferred from genetic interaction	20195242	GOA
involved in prostaglandin metabolic process	IMP IMP: Inferred from mutant phenotype	7876265	GOA
involved in very long-chain fatty acid beta-oxidation	IMP IMP: Inferred from mutant phenotype	32169171	GOA
involved in very long-chain fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	18536048	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in peroxisome	IDA IDA: Inferred from direct assay	32169171	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	7876265	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACOX1 Protein Structure

Acyl-CoA_ox_N

Acyl-CoA_dh_M

ACOX

0
200
400
600
660 a.a.

Protein Preferred Names	Protein Names
peroxisomal acyl-coenzyme A oxidase 1	acyl-CoA oxidase 1, palmitoyl

Recombinant ACOX1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75541	ACOX1 Protein, Human (sf9, His)	AAH08767.1 (M1-L660)	≥ 90%, as determined by reducing SDS-PAGE.

ACOX1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810822	ACOX1 Antibody (YA10065)	WB, IHC-P, ICC/IF	Human
HY-P82234	ACOX1 Antibody (YA1979)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P82234A	ACOX1 Antibody (YA1979)(PBS only)	WB, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Peroxisomal Acyl-Coa Oxidase Deficiency	Pseudoneonatal Adrenoleukodystrophy Straight-Chain Acyl-Coa Oxidase Deficiency Pseudoadrenoleukodystrophy PSEUDO-NALD Pseudo-Neonatal Adrenoleukodystrophy Acyl-Coa Oxidase Deficiency Peroxisomal Acyl-Coenzyme A Oxidase Acyl-Coenzyme A Oxidase Deficiency Adrenoleukodystrophy, Pseudoneonatal Deficiency, Peroxisomal Acyl-Coa Oxidase
Mitchell Syndrome	MITCH
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelic Chondrodysplasia Punctata Type 1 RCDP1 Peroxisome Biogenesis Disorder 9 Pbd9 Chondrodysplasia Punctata, Rhizomelic Form Cdpr Chondrodystrophia Calcificans Punctata Rhizomelic Chondrodysplasia Punctata 1 Chondrodysplasia Punctata, Rhizomelic, Type 1 Chondrodysplasia Punctata, Rhizomelic
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Leukodystrophy	Leukodystrophies
Alpha-Methylacyl-Coa Racemase Deficiency	Amacr Deficiency AMACRD
Fatty Liver Disease	Alcoholic Fatty Liver Fatty Liver Fatty Liver, Alcoholic Fatty Change Of Liver Hepatic Lipidosis Steatosis Of Liver Fatty Liver Alcoholic Steatohepatitis Etoh Fatty Liver Etoh Fatty Liver Metamorphosis Fatty Etoh Liver Necrosis
Neonatal Adrenoleukodystrophy	Nald Adrenoleukodystrophy Autosomal Neonatal Form Intermediate Pbd-Zsd Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Adrenoleukodystrophy, Autosomal, Neonatal Form Adrenoleukodystrophy Neonatal Adrenoleukodystrophy, Neonatal
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Retinal Dystrophy With Leukodystrophy	RDLKD Acbd5 Deficiency Dystrophy, Retinal, With Leukodystrophy
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Polyneuropathy	Polyneuropathies
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-135425	10,12-Tricosadiynoic acid	Inhibitor	99.95%	Unkown
HY-N1966	(E)-Osmundacetone		99.81%	Unkown
HY-N0853A	Alisol A 24-acetate		98.0%	Unkown
HY-RS00182	ACOX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17057	Acox1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23501	Acox1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ACOX1	VGNC	VGNC:69380
Mus musculus	ACOX1	MGD	MGI:1330812
Felis catus	ACOX1	VGNC	VGNC:59522
Canis familiaris	ACOX1	VGNC	VGNC:37521
Bos taurus	ACOX1	VGNC	VGNC:25552
Rattus norvegicus	ACOX1	RGD	RGD:619757
Others	ACOX1	NCBI