ACAA1: Acetyl-CoA Acyltransferase 1 (Peroxisomal 3-Oxoacyl-CoA Thiolase)
Key enzyme in peroxisomal fatty acid beta-oxidation; associated with peroxisomal biogenesis disorders.
Gene Information Card
| Symbol | ACAA1 |
|---|---|
| Full Name | Acetyl-CoA Acyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.2 |
| NCBI Gene ID | 30 ncbi.nlm.nih.gov/gene/30 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | P09110 |
| OMIM ID | 604054 |
| HGNC ID | 93 |
| Aliases | THIO, PTHIO, ACAA, PT, DKFZp686P15210 |
Description
ACAA1 encodes peroxisomal 3-oxoacyl-CoA thiolase, a key enzyme in the peroxisomal beta-oxidation pathway. It catalyzes the thiolytic cleavage of 3-oxoacyl-CoA to acetyl-CoA and a shortened acyl-CoA. This enzyme is essential for the degradation of very long-chain fatty acids, branched-chain fatty acids, and bile acid intermediates. Defects in ACAA1 are associated with peroxisomal biogenesis disorders, including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder (Zellweger syndrome spectrum) | Loss of thiolase activity impairs peroxisomal beta-oxidation, leading to accumulation of very long-chain fatty acids. | ClinVar, OMIM |
| Adrenoleukodystrophy (X-linked) | Secondary involvement; ACAA1 dysfunction exacerbates VLCFA accumulation. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Heart | 4.2 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line |
| HEK293 | 7.5 | Embryonic kidney |
| HeLa | 4.0 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.500_501del (p.Glu167fs) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported ACAA1 mutations lead to loss of thiolase activity, impairing peroxisomal beta-oxidation.
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:0003988 (acetyl-CoA C-acyltransferase activity) | • GO:0006635 (fatty acid beta-oxidation) |
| • GO:0005777 (peroxisome) | • GO:0016042 (lipid catabolic process) |
Pathways
• Peroxisomal beta-oxidation (Reactome: R-HSA-77289)
• Fatty acid metabolism (KEGG: hsa00071)
Protein Summary
Peroxisomal 3-oxoacyl-CoA thiolase (ACAA1) is a homodimeric enzyme localized in the peroxisomal matrix. It catalyzes the final step of peroxisomal beta-oxidation, cleaving 3-oxoacyl-CoA into acetyl-CoA and a shortened acyl-CoA. The protein is synthesized as a precursor with a peroxisomal targeting signal (PTS2) and is processed upon import. Deficiency leads to accumulation of very long-chain fatty acids and bile acid intermediates, contributing to peroxisomal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAA1 Knockout HEK293 Cell Line | EDJ-KQ3991 | Human | 30 | Details Get a Quote |
| ACAA1 Knockout A-549 Cell Line | EDJ-KQ26305 | Human | 30 | Details Get a Quote |
| ACAA1 Knockout HCT 116 Cell Line | EDJ-KQ26306 | Human | 30 | Details Get a Quote |
| ACAA1 Knockout HeLa Cell Line | EDJ-KQ26307 | Human | 30 | Details Get a Quote |
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