ACAT2
Acetyl-CoA Acetyltransferase 2
Gene Information Card
| Symbol | ACAT2 |
|---|---|
| Full Name | Acetyl-CoA Acetyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 39 ncbi.nlm.nih.gov/gene/39 |
| Ensembl ID | ENSG00000120437 |
| UniProt ID | Q9BWD1 |
| OMIM ID | 100678 |
| HGNC ID | 94 |
| Aliases | ACAT2, THIC, MAT |
Description
ACAT2 encodes the cytosolic enzyme acetyl-CoA acetyltransferase 2, which catalyzes the reversible condensation of two acetyl-CoA molecules to form acetoacetyl-CoA. This enzyme is critical in cholesterol biosynthesis and ketone body metabolism. It is expressed predominantly in the liver and intestine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercholesterolemia | Increased ACAT2 activity may elevate cholesterol synthesis | OMIM #143890 |
| Atherosclerosis | Altered cholesterol esterification in macrophages | NCBI Gene PMID: 14597952 |
| Metabolic syndrome | Dysregulation of lipid metabolism | ClinVar SCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Small Intestine | 38.7 | High |
| Adrenal Gland | 12.1 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.5 | Hepatocellular carcinoma cell line |
| Caco-2 | 55.3 | Colorectal adenocarcinoma cell line |
| THP-1 | 8.9 | Monocytic leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T | Missense | 0.01% | p.Arg34Cys; reduced enzyme activity |
| c.245G>A | Nonsense | 0.001% | p.Trp82*; loss of function |
| c.500_501insA | Frameshift | 0.005% | p.Glu167fs; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional enzyme.
Gain of Function (GOF)
Not reported in ACAT2.
Dominant Negative (DN)
Not reported in ACAT2.
View complete mutation data：
Gene Ontology (GO)
| • acetyl-CoA C-acetyltransferase activity | • cholesterol biosynthetic process |
| • cytosol | • ketone body biosynthetic process |
Pathways
• Cholesterol biosynthesis
• Ketone body metabolism
• Metabolic pathways
Protein Summary
ACAT2 is a 397-amino acid cytosolic enzyme that forms a homotetramer. It catalyzes the first step in the mevalonate pathway for cholesterol synthesis. The protein contains a thiolase active site with a conserved cysteine residue essential for catalysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAT2 Knockout HEK293 Cell Line | EDJ-KQ3994 | Human | 39 | Details Get a Quote |
| ACAT2 Knockout A-549 Cell Line | EDJ-KQ26314 | Human | 39 | Details Get a Quote |
| ACAT2 Knockout HCT 116 Cell Line | EDJ-KQ26315 | Human | 39 | Details Get a Quote |
| ACAT2 Knockout HeLa Cell Line | EDJ-KQ26316 | Human | 39 | Details Get a Quote |
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