ACOX3
Acyl-CoA Oxidase 3, Pristanoyl-CoA Oxidase
Gene Information Card
| Symbol | ACOX3 |
|---|---|
| Full Name | Acyl-CoA Oxidase 3, Pristanoyl-CoA Oxidase |
| Gene Type | Protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 8310 ncbi.nlm.nih.gov/gene/8310 |
| Ensembl ID | ENSG00000187098 |
| UniProt ID | O15254 |
| OMIM ID | 603402 |
| HGNC ID | 120 |
| Aliases | PCOX, ACOX3, pristanoyl-CoA oxidase |
Description
ACOX3 encodes pristanoyl-CoA oxidase, a peroxisomal enzyme involved in the beta-oxidation of branched-chain fatty acids such as pristanic acid. It is one of three acyl-CoA oxidases in humans and is essential for the metabolism of phytanic acid derivatives. Mutations in ACOX3 are associated with peroxisomal disorders, including adult-onset sensorimotor neuropathy and cerebellar ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal acyl-CoA oxidase deficiency | Loss of ACOX3 function impairs pristanic acid oxidation, leading to accumulation of branched-chain fatty acids and neurological damage. | ClinVar, OMIM |
| Adult-onset sensorimotor neuropathy | Deficient pristanoyl-CoA oxidase activity causes progressive peripheral neuropathy and cerebellar ataxia. | OMIM 603402, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Skeletal Muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.503C>T (p.Pro168Leu) | Missense | <0.01% | Reduced enzyme activity, associated with peroxisomal disorder |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Pro168Leu reduce or abolish pristanoyl-CoA oxidase activity.
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)
| • acyl-CoA oxidase activity | • peroxisome |
| • fatty acid beta-oxidation | • pristanic acid metabolic process |
Pathways
• Peroxisomal beta-oxidation of branched-chain fatty acids
• Phytanic acid metabolism
Protein Summary
Pristanoyl-CoA oxidase (UniProt O15254) is a 661-amino acid peroxisomal enzyme that catalyzes the first step of beta-oxidation for branched-chain acyl-CoAs. It forms a homodimer and requires FAD as a cofactor. The protein is highly expressed in liver and kidney, and its deficiency leads to accumulation of pristanic acid and related neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOX3 Knockout HEK293 Cell Line | EDJ-KQ1809 | Human | 8310 | Details Get a Quote |
| ACOX3 Knockout A-549 Cell Line | EDJ-KQ21658 | Human | 8310 | Details Get a Quote |
| ACOX3 Knockout HCT 116 Cell Line | EDJ-KQ21659 | Human | 8310 | Details Get a Quote |
| ACOX3 Knockout HeLa Cell Line | EDJ-KQ21660 | Human | 8310 | Details Get a Quote |
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