ACAA2: Acetyl-CoA Acyltransferase 2 (Mitochondrial 3-Oxoacyl-CoA Thiolase)
Mitochondrial thiolase involved in fatty acid beta-oxidation and ketone body metabolism
Gene Information Card
| Symbol | ACAA2 |
|---|---|
| Full Name | Acetyl-CoA Acyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 10449 ncbi.nlm.nih.gov/gene/10449 |
| Ensembl ID | ENSG00000101558 |
| UniProt ID | P42765 |
| OMIM ID | 604770 |
| HGNC ID | 85 |
| Aliases | DSAEC, MGC71999, THIO |
Description
ACAA2 encodes the mitochondrial 3-oxoacyl-CoA thiolase, a key enzyme in fatty acid beta-oxidation and ketone body metabolism. It catalyzes the thiolytic cleavage of 3-oxoacyl-CoA to acetyl-CoA and a shortened acyl-CoA chain. The enzyme is localized to the mitochondrial matrix and is essential for energy production from fatty acids, particularly during fasting or prolonged exercise. Defects in ACAA2 have been associated with metabolic disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial trifunctional protein deficiency (mild form) | Impaired beta-oxidation due to reduced thiolase activity | ClinVar: pathogenic variants reported |
| 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (secondary) | Disrupted ketone body metabolism | OMIM: 604770 |
| Hepatocellular carcinoma | Altered lipid metabolism and ACAA2 downregulation | COSMIC: somatic mutations observed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Heart | 10.2 | High |
| Kidney | 8.7 | Medium |
| Skeletal Muscle | 7.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Liver cancer cell line |
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
| K562 | 4.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.200A>G (p.Asn67Ser) | Missense | <0.01% | Uncertain significance |
| c.350delG (p.Gly117Valfs*3) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • acetyl-CoA C-acyltransferase activity (GO:0003988) | • fatty acid beta-oxidation (GO:0006635) |
| • mitochondrion (GO:0005739) | • cellular lipid catabolic process (GO:0044242) |
| • lipid catabolic process (GO:0016042) |
Pathways
• Fatty acid beta-oxidation (KEGG: hsa00071)
• Ketone body metabolism (KEGG: hsa00072)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
ACAA2 is a 427-amino acid mitochondrial thiolase that forms a homotetramer. It catalyzes the last step of each cycle of fatty acid beta-oxidation, cleaving 3-oxoacyl-CoA into acetyl-CoA and a shortened acyl-CoA. The enzyme also participates in ketone body synthesis by converting acetoacetyl-CoA to acetyl-CoA. Its expression is highest in liver and heart, reflecting high fatty acid oxidation rates. Mutations can lead to metabolic dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAA2 Knockout HEK293 Cell Line | EDJ-KQ7051 | Human | 10449 | Details Get a Quote |
| ACAA2 Knockout HCT 116 Cell Line | EDJ-KQ30462 | Human | 10449 | Details Get a Quote |
| ACAA2 Knockout A-549 Cell Line | EDJ-KQ31836 | Human | 10449 | Details Get a Quote |
| ACAA2 Knockout HeLa Cell Line | EDJ-KQ31838 | Human | 10449 | Details Get a Quote |
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