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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AACS
acetoacetyl-CoA synthetase
Chromosome 12 · 12q24.31
NCBI Gene: 65985Ensembl: ENSG00000081760.18HGNC: HGNC:21298UniProt: A0A5A4UB59
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingacetoacetate-CoA ligase activitypositive regulation of insulin secretionketone body biosynthetic processhearing lossalcohol drinkingskin diseaseneurodegenerative disease
✦AI Summary

AACS (acetoacetyl-CoA synthetase) is a cytosolic enzyme that converts acetoacetate to acetoacetyl-CoA, functioning as a ketone body-utilizing enzyme critical for lipid biosynthesis 1. As part of a hierarchical hepatic de novo lipogenesis (DNL) substrate supply network, AACS provides an alternative pathway for cytosolic acetyl-CoA production when major lipogenic pathways are compromised; notably, CiC knockout increases acetoacetate-supplied hepatic acetyl-CoA production and DNL via AACS, indicating ketones function as reciprocal DNL precursors to mitochondrial citrate 1. Beyond canonical hepatic lipogenesis, AACS enables non-canonical β-hydroxybutyrate metabolism in cancer cells, generating cytosolic acetyl-CoA that bypasses the TCA cycle to support nucleotide, amino acid, and lipid synthesis for cell proliferation 2. Clinically, AACS expression is dysregulated in multiple disease contexts: in Parkinson's disease, AACS mRNA is downregulated and identified as a lipid metabolism biomarker in patient tissues 3; in hepatocellular carcinoma, upregulated AACS correlates with shorter overall and relapse-free survival and associates with immune cell infiltration 4. Additionally, genetic variation near AACS is associated with insulin resistance in metabolic syndrome populations 5, suggesting a role in systemic metabolic regulation beyond local lipid synthesis.

Sources cited
1
AACS converts acetoacetate to acetoacetyl-CoA and provides AACS-dependent DNL pathway when mitochondrial citrate supply is blocked; ketones function as reciprocal DNL precursors
PMID: 39471817
2
AACS converts cytosolic acetoacetate to acetyl-CoA in non-canonical β-hydroxybutyrate metabolism supporting cancer cell proliferation
PMID: 40921754
3
AACS mRNA is downregulated in Parkinson's disease patients and identified as a lipid metabolism biomarker
PMID: 39080336
4
Upregulated AACS in hepatocellular carcinoma correlates with shorter survival and associates with immune cell infiltration
PMID: 36205594
5
Genetic variation near AACS associates with insulin resistance in metabolic syndrome populations
PMID: 30913280
Disease Associationsⓘ20
hearing lossOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.35Weak
skin diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.25Weak
ShockOpen Targets
0.22Weak
Skull FracturesOpen Targets
0.22Weak
septic shockOpen Targets
0.20Weak
response to statinOpen Targets
0.13Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
movement disorderOpen Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.04Suggestive
intellectual disability, autosomal dominant 50Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACAT1Protein interaction96%ACAT2Protein interaction96%BDH1Protein interaction96%EHHADHProtein interaction96%HMGCS1Protein interaction96%HMGCS2Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Heart
44%
Ovary
43%
Bone Marrow
42%
Lung
39%
Liver
24%
Gene Interaction Network
Click a node to explore
AACSACAT1ACAT2BDH1EHHADHHMGCS1HMGCS2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86V21
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.64–0.97]
RankingsWhere AACS stands among ~20K protein-coding genes
  • #13,816of 20,598
    Most Researched21
  • #9,171of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedAACS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A hierarchical hepatic de novo lipogenesis substrate supply network utilizing pyruvate, acetate, and ketones.
PMID: 39471817
Cell Metab · 2025
1.00
2
COMPRENDO: Focus and approach.
PMID: 16818253
Environ Health Perspect · 2006
0.90
3
Identifying MSMO1, ELOVL6, AACS, and CERS2 related to lipid metabolism as biomarkers of Parkinson's disease.
PMID: 39080336
Sci Rep · 2024
0.80
4
Apical Access Management in Transapical Transcatheter Mitral Valve Replacement.
PMID: 40015546
Ann Thorac Surg · 2025
0.70
5
Reclusive chandeliers: Functional isolation of dentate axo-axonic cells after experimental status epilepticus.
PMID: 37898313
Prog Neurobiol · 2023
0.60