ACOX2
Acyl-CoA Oxidase 2, Branched Chain
Gene Information Card
| Symbol | ACOX2 |
|---|---|
| Full Name | Acyl-CoA Oxidase 2, Branched Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 8309 ncbi.nlm.nih.gov/gene/8309 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | Q99424 |
| OMIM ID | 601641 |
| HGNC ID | 120 |
| Aliases | BRCACOX, BCOX, THCCox |
Description
ACOX2 encodes acyl-CoA oxidase 2, a peroxisomal enzyme that catalyzes the first step of branched-chain fatty acid beta-oxidation, specifically for pristanic acid and bile acid intermediates. Deficiency leads to impaired bile acid synthesis and peroxisomal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal acyl-CoA oxidase deficiency | Loss of ACOX2 function disrupts branched-chain fatty acid oxidation, causing accumulation of pristanic acid and bile acid intermediates. | OMIM #601641; ClinVar |
| Bile acid synthesis defect, congenital, 6 | Mutations in ACOX2 impair conversion of trihydroxycholestanoic acid to cholic acid, leading to progressive cholestasis. | OMIM #616278; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 5.1 | Low |
| Small intestine | 4.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cells |
| HeLa | 0.8 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.503G>A (p.Arg168His) | Missense | <0.01% | Reduced enzyme activity; associated with bile acid synthesis defect |
| c.1240C>T (p.Arg414*) | Nonsense | <0.01% | Loss of function; peroxisomal acyl-CoA oxidase deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish enzyme activity, leading to accumulation of branched-chain fatty acids and bile acid intermediates.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 (acyl-CoA oxidase activity) | • GO:0005777 (peroxisome) |
| • GO:0006635 (fatty acid beta-oxidation) | • GO:0008203 (bile acid metabolic process) |
| • GO:0050660 (flavin adenine dinucleotide binding) |
Pathways
• Peroxisomal beta-oxidation of branched-chain fatty acids (Reactome R-HSA-77289)
• Bile acid and bile salt metabolism (Reactome R-HSA-194068)
Protein Summary
ACOX2 is a 681-amino acid peroxisomal enzyme that functions as a homodimer. It contains a FAD-binding domain and catalyzes the desaturation of 2-methyl-branched-chain acyl-CoAs, producing enoyl-CoAs and hydrogen peroxide. The enzyme is essential for the degradation of pristanic acid and the side chain of bile acid intermediates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOX2 Knockout HEK293 Cell Line | EDJ-KQ6197 | Human | 8309 | Details Get a Quote |
| ACOX2 Knockout A-549 Cell Line | EDJ-KQ30033 | Human | 8309 | Details Get a Quote |
| ACOX2 Knockout HCT 116 Cell Line | EDJ-KQ30034 | Human | 8309 | Details Get a Quote |
| ACOX2 Knockout HeLa Cell Line | EDJ-KQ54852 | Human | 8309 | Details Get a Quote |
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