AlphaFold predicted structure
ACAT1 · P24752
Mean pLDDT
95.4/ 100
Very high
427 residues
Confidence breakdown
- Very high(≥ 90)92%
- Confident(70–90)1%
- Low(50–70)7%
- Very low(< 50)1%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ACAT1
Chr 11q22.3acetyl-CoA acetyltransferase 1
- Aliases:
- THIL
- MANE:
- ENST00000265838.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalKetotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
beta-ketothiolase deficiency
0.82hereditary disease
0.47Abnormality of the skeletal system
0.20neoplasm
0.11Uterine leiomyoma
0.11nonpapillary renal cell carcinoma
0.11colorectal carcinoma
0.10myopia
0.09lipoma
0.09bladder transitional cell carcinoma
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Acetyl-CoA acetyltransferase, mitochondrial
This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:1715688, PubMed:17371050, PubMed:7728148, PubMed:9744475)
Diseases associated with ACAT1
Curated MONDO disease pages that list ACAT1 among their top associated genes.