ACOX1: Acyl-CoA Oxidase 1, Palmitoyl
Peroxisomal fatty acid beta-oxidation enzyme linked to adrenoleukodystrophy and peroxisomal disorders
Gene Information Card
| Symbol | ACOX1 |
|---|---|
| Full Name | Acyl-CoA Oxidase 1, Palmitoyl |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 51 ncbi.nlm.nih.gov/gene/51 |
| Ensembl ID | ENSG00000161533 |
| UniProt ID | Q15067 |
| OMIM ID | 609751 |
| HGNC ID | 119 |
| Aliases | ACOX, PALMCOX, SCOX |
Description
The ACOX1 gene encodes acyl-CoA oxidase 1, the first and rate-limiting enzyme of the peroxisomal beta-oxidation pathway. It catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs, specifically acting on very long chain fatty acids (VLCFAs), branched-chain fatty acids, and bile acid intermediates. Deficiency leads to accumulation of VLCFAs and is associated with pseudoneonatal adrenoleukodystrophy (P-NALD), a peroxisomal biogenesis disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pseudoneonatal adrenoleukodystrophy (P-NALD) | Loss-of-function mutations in ACOX1 impair peroxisomal beta-oxidation, causing accumulation of VLCFAs, leading to neurological degeneration and adrenal insufficiency. | ClinVar, OMIM |
| Peroxisomal acyl-CoA oxidase deficiency | Biallelic pathogenic variants in ACOX1 result in defective VLCFA metabolism, presenting with hypotonia, seizures, and developmental delay. | OMIM #264470 |
| Adrenoleukodystrophy (X-ALD) | While X-ALD is primarily due to ABCD1 mutations, ACOX1 dysfunction can phenocopy aspects of the disorder due to overlapping VLCFA accumulation. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Kidney | 32.1 | High |
| Small intestine | 28.5 | High |
| Heart | 22.0 | Medium |
| Brain | 15.3 | Medium |
| Skeletal muscle | 10.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 52.4 | High expression |
| HEK 293 (embryonic kidney) | 35.1 | High expression |
| SH-SY5Y (neuroblastoma) | 18.7 | Medium expression |
| HeLa (cervical) | 12.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.677C>T (p.Pro226Leu) | Missense | <0.01% | Reduced enzyme activity; associated with P-NALD |
| c.826C>T (p.Arg276*) | Nonsense | <0.01% | Premature stop; loss of function; pathogenic |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein product; severe phenotype |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Impaired substrate binding; reduced activity |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic ACOX1 mutations are loss-of-function, leading to reduced or absent enzyme activity and VLCFA accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported in ACOX1.
Dominant Negative (DN)
No dominant-negative effects documented; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA oxidase activity | • GO:0005777 - peroxisome |
| • GO:0006635 - fatty acid beta-oxidation | • GO:0006631 - fatty acid metabolic process |
| • GO:0016042 - lipid catabolic process | • GO:0005737 - cytoplasm |
Pathways
• Peroxisomal beta-oxidation (Reactome: R-HSA-390918)
• Fatty acid metabolism (KEGG: hsa00071)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
Acyl-CoA oxidase 1 (ACOX1) is a 660-amino acid peroxisomal enzyme that catalyzes the first step of very long chain fatty acid beta-oxidation. It contains a FAD-binding domain and forms a homodimer. The enzyme acts on C16 to C24 acyl-CoAs, producing 2-trans-enoyl-CoA and hydrogen peroxide. Defects in ACOX1 cause pseudoneonatal adrenoleukodystrophy, characterized by progressive neurological decline and adrenal insufficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOX1 Knockout HEK293 Cell Line | EDJ-KQ1810 | Human | 51 | Details Get a Quote |
| ACOX1 Knockout HCT 116 Cell Line | EDJ-KQ20340 | Human | 51 | Details Get a Quote |
| ACOX1 Knockout A-549 Cell Line | EDJ-KQ21661 | Human | 51 | Details Get a Quote |
| ACOX1 Knockout HeLa Cell Line | EDJ-KQ21662 | Human | 51 | Details Get a Quote |
| ACOX1 Knockout Hep-G2 Cell Line | EDJ-KZ523 | Human | 51 | Details Get a Quote |
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