ACOX2 - acyl-CoA oxidase 2 Gene

Homo sapiens

Also known as BCOX; BRCOX; CBAS6; THCCox; BRCACOX

Gene ID: 8309 | Gene type: protein coding

About ACOX2

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,505,136-58,537,190 (from NCBI)

This gene has 13 transcripts (splice variants), 150 orthologues, 14 paralogues and is associated with 1 phenotype. Broad expression in liver (RPKM 44.4), kidney (RPKM 24.1) and 15 other tissues.

Summary

The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this Enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]

ACOX2 Products(1)

mRNA	Protein	Name
NM_003500.4	NP_003491.1	peroxisomal acyl-coenzyme A oxidase 2

ACOX2 Protein Structure

Acyl-CoA_ox_N

Acyl-CoA_dh_M

ACOX

0
200
400
600
681 a.a.

Protein Preferred Names

Protein Names

peroxisomal acyl-coenzyme A oxidase 2

3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase

Related Diseases

Diseases

Alias

Bile Acid Synthesis Defect, Congenital, 6

Congenital Bile Acid Synthesis Defect 6

CBAS6

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Cba
Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency	Basd
Bile Acid Synthesis Defect, Congenital, 1

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

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

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

Heart Cancer

Malignant Neoplasm Of Heart	Heart Neoplasm
Cardiac Tumor	Malignant Cardiac Tumor
Tumour Of Heart	Heart Neoplasms
Cardiac Carcinoma

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00183	ACOX2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ACOX2	VGNC	VGNC:59523
Rattus norvegicus	ACOX2	RGD	RGD:628684
Mus musculus	ACOX2	MGD	MGI:1934852
Bos taurus	ACOX2	VGNC	VGNC:25553
Macaca mulatta	ACOX2	VGNC	VGNC:69381
Canis familiaris	ACOX2	VGNC	VGNC:37522

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