ACOX3 - acyl-CoA oxidase 3, pristanoyl Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8310

About ACOX3

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:8,355,305-8,440,723 (from NCBI)

This gene has 8 transcripts (splice variants), 189 orthologues and 14 paralogues. Ubiquitous expression in esophagus (RPKM 3.5), skin (RPKM 3.1) and 25 other tissues.

Summary

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]

ACOX3 Products (10)

mRNA Protein Name
NM_001101667.2 NP_001095137.1 peroxisomal acyl-coenzyme A oxidase 3 isoform b
NM_001375783.1 NP_001362712.1 peroxisomal acyl-coenzyme A oxidase 3 isoform a
NM_001375784.1 NP_001362713.1 peroxisomal acyl-coenzyme A oxidase 3 isoform c
NM_001375785.1 NP_001362714.1 peroxisomal acyl-coenzyme A oxidase 3 isoform d
NM_001375786.1 NP_001362715.1 peroxisomal acyl-coenzyme A oxidase 3 isoform d
NM_001375787.1 NP_001362716.1 peroxisomal acyl-coenzyme A oxidase 3 isoform e
NM_001375788.1 NP_001362717.1 peroxisomal acyl-coenzyme A oxidase 3 isoform b
NM_001375789.1 NP_001362718.1 peroxisomal acyl-coenzyme A oxidase 3 isoform f
NM_001375790.1 NP_001362719.1 peroxisomal acyl-coenzyme A oxidase 3 isoform g
NM_003501.3 NP_003492.2 peroxisomal acyl-coenzyme A oxidase 3 isoform a
Cellular Component GO Annotation Evidence References Source
located in peroxisome IDA
IDA: Inferred from direct assay
8993592 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

ACOX3 Protein Structure

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (155 - 213)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (301 - 460)

ACOX

ACOX: Acyl-CoA oxidase (507 - 692)

  • 0
  • 200
  • 400
  • 600
  • 700 a.a.
Protein Preferred Names Protein Names

peroxisomal acyl-coenzyme A oxidase 3

  • BRCACox

Related Diseases

Diseases Alias
Zellweger Syndrome
  • Cerebrohepatorenal Syndrome

  • Zellweger Leukodystrophy

  • Zs

  • Congenital Iron Overload

  • Chr

  • Zws

  • Severe Pbd-Zsd

  • Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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

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 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

Orthologs Information

Species Symbol Source ID
Felis catus ACOX3 VGNC VGNC:59524
Rattus norvegicus ACOX3 RGD RGD:69245
Bos taurus ACOX3 VGNC VGNC:25554
Mus musculus ACOX3 MGD MGI:1933156
Canis familiaris ACOX3 VGNC VGNC:37523
Macaca mulatta ACOX3 VGNC VGNC:69382
Others ACOX3 NCBI