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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACACB
acetyl-CoA carboxylase beta
Chromosome 12 · 12q24.11
NCBI Gene: 32Ensembl: ENSG00000076555.16HGNC: HGNC:85UniProt: O00763
125PubMed Papers
20Diseases
4Drugs
0Pathogenic Variants
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingprotein homotetramerizationnucleusacneautism spectrum disorderpulmonary vascular congestioncervical carcinoma
✦AI Summary

ACACB (acetyl-CoA carboxylase beta) is a mitochondrial enzyme catalyzing the carboxylation of acetyl-CoA to malonyl-CoA, a critical control point in fatty acid metabolism 1. The enzyme performs a two-step ATP-dependent reaction involving biotin carboxylation followed by carboxyl group transfer to acetyl-CoA 2. Through malonyl-CoA production, ACACB allosterically inhibits carnitine palmitoyltransferase 1, thereby suppressing fatty acid oxidation and promoting lipid storage 3. In hepatocellular carcinoma, ACACB dysregulation accelerates disease development; AMPK-mediated phosphorylation of ACC2 (Ser212) normally suppresses de novo lipogenesis, while loss-of-function mutations increase liver lesions 4. Conversely, ACC inhibition also increases hepatic gluconeogenesis by activating CPT-1-mediated fat oxidation and pyruvate carboxylase, revealing complex metabolic compensation 5. ACACB genetic variants associate with insulin sensitivity and adipose gene expression in humans 6, and rs2268388 links to diabetic nephropathy risk, elevated BMI, and increased hepatic triglycerides in obese populations 7. In cancer, ACC inhibition suppresses fatty acid synthesis required for tumor growth in non-small-cell lung cancer models 8, while PHD3-mediated ACC2 hydroxylation regulates exercise capacity through skeletal muscle fat oxidation 9.

Sources cited
1
ACACB catalyzes carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism
PMID: 16854592
2
ACACB performs a two-step ATP-dependent reaction starting with biotin carboxylation followed by carboxyl group transfer to acetyl-CoA
PMID: 19236960
3
ACC2/CPT1a axis involves malonyl-CoA inhibition of CPT1a-mediated fatty acid oxidation, relevant to T cell metabolism
PMID: 30043753
4
AMPK phosphorylation of ACC2 at Ser212 regulates de novo lipogenesis; loss-of-function mutations increase HCC development and hepatic lesions
PMID: 30244972
5
ACC inhibition increases hepatic gluconeogenesis, anaplerosis, and TCA cycle intermediates through CPT-1 and pyruvate carboxylase activation
PMID: 38447582
6
ACACB transcribed SNP rs2075260 associates with adipose ACACB expression and insulin sensitivity in humans
PMID: 21887335
7
ACACB SNP rs2268388 associates with BMI and diabetic nephropathy; T allele linked to higher ACACB adipose and liver expression and hepatic triglycerides
PMID: 23460794
8
ACC inhibition suppresses de novo fatty acid synthesis and tumor growth in non-small-cell lung cancer preclinical models
PMID: 27643638
9
PHD3-mediated ACC2 hydroxylation regulates fatty acid oxidation and exercise capacity in skeletal muscle
PMID: 32663458
Disease Associationsⓘ20
acneOpen Targets
0.36Weak
autism spectrum disorderOpen Targets
0.33Weak
pulmonary vascular congestionOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.25Weak
neuroinflammatory disorderOpen Targets
0.21Weak
non-alcoholic steatohepatitisOpen Targets
0.11Weak
non-alcoholic fatty liver diseaseOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.06Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.04Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.04Suggestive
heart failureOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
glycogen storage disease VIOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets4
CLESACOSTATPhase II
Acetyl-CoA carboxylase inhibitor
non-alcoholic steatohepatitis
FIRSOCOSTATPhase II
Acetyl-CoA carboxylase negative allosteric modulator
non-alcoholic steatohepatitis
OLUMACOSTAT GLASARETILPhase III
Acetyl-CoA carboxylase inhibitor
acne
PF-05175157Phase II
Acetyl-CoA carboxylase inhibitor
type 2 diabetes mellitus
Related Genes
HADHBProtein interaction100%PRKAG1Protein interaction100%PRKAG3Protein interaction100%PRKAA2Protein interaction100%PRKAA1Protein interaction100%PRKAG2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
47%
Ovary
24%
Lung
12%
Bone Marrow
7%
Brain
5%
Gene Interaction Network
Click a node to explore
ACACBHADHBPRKAG1PRKAG3PRKAA2PRKAA1PRKAG2
PROTEIN STRUCTURE
Preparing viewer…
PDB3GLK · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.67–0.84]
RankingsWhere ACACB stands among ~20K protein-coding genes
  • #3,751of 20,598
    Most Researched125 · top quartile
  • #7,264of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedACACB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Etomoxir Actions on Regulatory and Memory T Cells Are Independent of Cpt1a-Mediated Fatty Acid Oxidation.
PMID: 30043753
Cell Metab · 2018
1.00
2
Inhibition of Acetyl-CoA Carboxylase by Phosphorylation or the Inhibitor ND-654 Suppresses Lipogenesis and Hepatocellular Carcinoma.
PMID: 30244972
Cell Metab · 2019
0.90
3
Hepatic malonyl-CoA synthesis restrains gluconeogenesis by suppressing fat oxidation, pyruvate carboxylation, and amino acid availability.
PMID: 38447582
Cell Metab · 2024
0.80
4
The effect of ACACB cis-variants on gene expression and metabolic traits.
PMID: 21887335
PLoS One · 2011
0.70
5
Inhibition of acetyl-CoA carboxylase suppresses fatty acid synthesis and tumor growth of non-small-cell lung cancer in preclinical models.
PMID: 27643638
Nat Med · 2016
0.60