AACS Gene - Acetoacetyl-CoA Synthetase
Comprehensive gene information for AACS, encoding acetoacetyl-CoA synthetase involved in ketone body metabolism and lipid biosynthesis.
Gene Information Card
| Symbol | AACS |
|---|---|
| Full Name | Acetoacetyl-CoA Synthetase |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 65985 ncbi.nlm.nih.gov/gene/65985 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q86V21 |
| OMIM ID | 614364 |
| HGNC ID | 21299 |
| Aliases | ACS, ACSF1, MGC138207 |
Description
The AACS gene encodes acetoacetyl-CoA synthetase, an enzyme that catalyzes the conversion of acetoacetate to acetoacetyl-CoA in the presence of ATP and CoA. This reaction is a key step in ketone body utilization and lipid biosynthesis, particularly in the brain and liver. The enzyme plays a role in cholesterol and fatty acid synthesis by providing acetoacetyl-CoA as a precursor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Potential involvement in ketone body metabolism disruption; AACS dysfunction may impair acetoacetyl-CoA production, affecting HMG-CoA synthesis. | Inferred from metabolic pathway similarity; no direct ClinVar association. |
| Hypercholesterolemia | AACS contributes to cholesterol biosynthesis; altered expression may influence lipid levels. | Inferred from biochemical function; no direct disease association in OMIM. |
| Cancer (general) | AACS expression changes observed in certain tumors; may support lipid synthesis for proliferation. | COSMIC database reports somatic mutations in various cancers. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Heart | 4.2 | Low |
| Skeletal Muscle | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line; high expression |
| SH-SY5Y | 9.5 | Neuroblastoma cell line; moderate expression |
| HEK293 | 7.2 | Embryonic kidney cells; moderate expression |
| A549 | 5.0 | Lung carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; predicted possibly damaging by in silico tools |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown; predicted benign |
| c.1573_1574del (p.Leu525fs) | Frameshift | <0.01% | Likely loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu525fs) likely result in truncated, non-functional enzyme, impairing acetoacetyl-CoA synthesis.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003988 - acetoacetyl-CoA synthetase activity | • GO:0005524 - ATP binding |
| • GO:0006633 - fatty acid biosynthetic process | • GO:0006695 - cholesterol biosynthetic process |
| • GO:0046951 - ketone body catabolic process |
Pathways
• Ketone body metabolism (Reactome: R-HSA-77111)
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Fatty acid biosynthesis (KEGG: hsa00061)
Protein Summary
Acetoacetyl-CoA synthetase (UniProt Q86V21) is a 65 kDa cytosolic enzyme that catalyzes the ligation of acetoacetate with CoA to form acetoacetyl-CoA. It is highly expressed in liver and brain, where it supports ketone body utilization and lipid synthesis. The protein contains an ATP-binding domain and a CoA-binding site, essential for its catalytic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AACS Knockout HEK293 Cell Line | EDJ-KQ3950 | Human | 65985 | Details Get a Quote |
| AACS Knockout A-549 Cell Line | EDJ-KQ26211 | Human | 65985 | Details Get a Quote |
| AACS Knockout HCT 116 Cell Line | EDJ-KQ26212 | Human | 65985 | Details Get a Quote |
| AACS Knockout HeLa Cell Line | EDJ-KQ24869 | Human | 65985 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
