ACOX1 Chromosome 17
Acyl-CoA oxidase 1
Upload your DNA to see your personal genotypes for variants in ACOX1.
What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000161533
Associated Conditions (6)
Acyl-CoA oxidase deficiency
Inborn genetic diseases
ACOX1-related disorder
Mitchell syndrome
Muscle weakness
Gastric cancer
Key Variants
RS142474717
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
RS143260706
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Inborn genetic diseases, Acyl-CoA oxidase deficiency
Health Risk
RS144826451
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
RS1449232218
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Inborn genetic diseases, ACOX1-related disorder
Health Risk
RS145056278
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, ACOX1-related disorder, Acyl-CoA oxidase deficiency
Health Risk
RS145971170
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency
Health Risk
RS186993093
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
RS199908120
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
RS200833797
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Inborn genetic diseases, ACOX1-related disorder
Health Risk
RS2065755060
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
RS372701360
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
RS374533122
Conflicting classifications of pathogenicity
Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118204092 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS118204093 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS1261914662 | Health Risk | Pathogenic | Mitchell syndrome, Acyl-CoA oxidase deficiency, Mitchell syndrome |
| RS1338953985 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS1423636259 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2065757552 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2065875711 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2065876254 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2065876304 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2144240988 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2144271419 | Health Risk | Pathogenic | — |
| RS2546074464 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546074630 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546074880 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546075164 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546076304 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546079619 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546097920 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546097956 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS2546098054 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS387906248 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS536723496 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS542410903 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS750610720 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS758857773 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS759944879 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS773710550 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS780675610 | Health Risk | Pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency |
| RS1292759098 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS1332660959 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS1466419887 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS1567876984 | Health Risk | Pathogenic/Likely pathogenic | Mitchell syndrome, ACOX1-related disorder, Acyl-CoA oxidase deficiency |
| RS1567892272 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS2546077811 | Health Risk | Pathogenic/Likely pathogenic | Mitchell syndrome, Acyl-CoA oxidase deficiency, Mitchell syndrome |
| RS2546097846 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS2546097855 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |
| RS747192384 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency, Mitchell syndrome |
| RS769644289 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA oxidase deficiency, Mitchell syndrome, Acyl-CoA oxidase deficiency |