ACOX2 - acyl-CoA oxidase 2 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8309

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IDA IDA: Inferred from direct assay	27884763	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in bile acid biosynthetic process	IDA IDA: Inferred from direct assay	27884763	GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase	IDA IDA: Inferred from direct assay	27884763	GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase	IMP IMP: Inferred from mutant phenotype	27884763	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in peroxisome	IDA IDA: Inferred from direct assay	2079609	GOA
located in peroxisome	IMP IMP: Inferred from mutant phenotype	27884763	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

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

ACOX2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	ACOX2	Q99424	STRN3	Homo sapiens	Q13033	Anti Tag CoIP	33961781
Intra	ACOX2	Q99424	STRN3	Homo sapiens	Q13033	Anti Tag CoIP	28514442
Intra	ACOX2	Q99424	DYNLT1	Homo sapiens	P63172	Y2H Prey Pooling	32296183
Intra	ACOX2	Q99424	DYNLT1	Homo sapiens	P63172	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

ACOX2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P811543	ACOX2 Antibody	WB, ELISA	Human, Mouse, Rat
HY-P89781	ACOX2 Antibody (YA9125)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS00183	ACOX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	ACOX2	NCBI