ACOX2 Chromosome 3
Acyl-CoA oxidase 2
Upload your DNA to see your personal genotypes for variants in ACOX2.
What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000168306
Associated Conditions (3)
ACOX2-related disorder
Congenital bile acid synthesis defect 6
Colorectal cancer
Key Variants
RS140407587
Conflicting classifications of pathogenicity
Health Risk
RS148493303
Conflicting classifications of pathogenicity
ACOX2-related disorder, ACOX2-related disorder
Health Risk
RS150778355
Conflicting classifications of pathogenicity
Health Risk
RS150832314
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 6, ACOX2-related disorder, Congenital bile acid synthesis defect 6
Health Risk
RS151184272
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 6, ACOX2-related disorder, Congenital bile acid synthesis defect 6
Health Risk
RS34391522
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 6, ACOX2-related disorder, Congenital bile acid synthesis defect 6
Health Risk
RS369316238
Conflicting classifications of pathogenicity
ACOX2-related disorder, ACOX2-related disorder
Health Risk
RS751041263
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 6, Colorectal cancer, Congenital bile acid synthesis defect 6
Health Risk
RS1057519329
Pathogenic
Congenital bile acid synthesis defect 6, Congenital bile acid synthesis defect 6
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140407587 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148493303 | Health Risk | Conflicting classifications of pathogenicity | ACOX2-related disorder, ACOX2-related disorder |
| RS150778355 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150832314 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 6, ACOX2-related disorder, Congenital bile acid synthesis defect 6 |
| RS151184272 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 6, ACOX2-related disorder, Congenital bile acid synthesis defect 6 |
| RS34391522 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 6, ACOX2-related disorder, Congenital bile acid synthesis defect 6 |
| RS369316238 | Health Risk | Conflicting classifications of pathogenicity | ACOX2-related disorder, ACOX2-related disorder |
| RS751041263 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 6, Colorectal cancer, Congenital bile acid synthesis defect 6 |
| RS1057519329 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 6, Congenital bile acid synthesis defect 6 |