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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ACOT13
acyl-CoA thioesterase 13
Chromosome 6 · 6p22.3
NCBI Gene: 55856Ensembl: ENSG00000112304.12HGNC: HGNC:20999UniProt: Q9NPJ3
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein homotetramerizationmitochondrionfatty acyl-CoA hydrolase activitycomplicationhemorrhageuveitisiritis
✦AI Summary

ACOT13 (acyl-CoA thioesterase 13) is a mitochondrial enzyme that catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A, thereby regulating intracellular levels of these metabolites 12. The protein exhibits thioesterase activity toward medium-chain (C12) and long-chain (C18) fatty acyl-CoA substrates and can also hydrolyze aromatic substrates like 3-hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA 12. ACOT13 appears to play a regulatory role in lipid metabolism and may contribute to controlling adaptive thermogenesis. Disease relevance includes associations with multiple conditions: genetic variants in ACOT13 have been linked to ankylosing spondylitis through Mendelian randomization studies 3, resistance to retained placenta in Holstein cattle 4, and autosomal dominant polycystic kidney disease through whole exome sequencing analysis 5. The gene has also been incorporated into prognostic models for ovarian cancer, suggesting broader clinical significance 67. Additionally, ACOT13 variants show association with language skills in children with autism spectrum disorders, indicating potential roles in neurodevelopmental processes 8. These findings suggest ACOT13 functions extend beyond basic metabolism to influence diverse physiological and pathological processes.

Sources cited
1
ACOT13 catalyzes hydrolysis of acyl-CoAs into free fatty acids and CoA, with activity toward medium and long-chain substrates
PMID: 16934754
2
ACOT13 has thioesterase activity and can hydrolyze aromatic substrates like 3-hydroxyphenylacetyl-CoA
PMID: 19170545
3
ACOT13 shows genetic association with ankylosing spondylitis risk through Mendelian randomization
PMID: 38566994
4
ACOT13 variants are associated with resistance to retained placenta in Holstein cattle
PMID: 38791589
5
ACOT13 identified as potential candidate gene for autosomal dominant polycystic kidney disease
PMID: 34886911
6
ACOT13 included in prognostic model for ovarian cancer overall survival
PMID: 39494284
7
ACOT13 incorporated into mitochondria-based risk score model for ovarian serous cystadenocarcinoma prognosis
PMID: 39754905
8
ACOT13 variants show suggestive association with language skills in children with autism spectrum disorders
PMID: 25448322
Disease Associationsⓘ20
complicationOpen Targets
0.28Weak
hemorrhageOpen Targets
0.27Weak
uveitisOpen Targets
0.27Weak
iritisOpen Targets
0.27Weak
Autosomal dominant polycystic kidney diseaseOpen Targets
0.09Suggestive
Hepatic steatosisOpen Targets
0.06Suggestive
Insulin resistanceOpen Targets
0.03Suggestive
osteopathia striata with cranial sclerosisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
HepatitisOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
steatosisOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
liver diseaseOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
Glucose intoleranceOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCTPProtein interaction96%ACOT1Protein interaction95%KIAA0319Protein interaction95%TDP2Protein interaction94%DCDC2Protein interaction92%UBIAD1Protein interaction89%
Tissue Expression6 tissues
Liver
100%
Heart
73%
Brain
62%
Lung
23%
Bone Marrow
18%
Ovary
16%
Gene Interaction Network
Click a node to explore
ACOT13PCTPACOT1KIAA0319TDP2DCDC2UBIAD1
PROTEIN STRUCTURE
Preparing viewer…
PDB3F5O · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.53–1.45]
RankingsWhere ACOT13 stands among ~20K protein-coding genes
  • #8,761of 20,598
    Most Researched50
  • #14,869of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedACOT13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Proteome-wide Mendelian randomization identifies therapeutic targets for ankylosing spondylitis.
PMID: 38566994
Front Immunol · 2024
1.00
2
Large-Sample Genome-Wide Association Study of Resistance to Retained Placenta in U.S. Holstein Cows.
PMID: 38791589
Int J Mol Sci · 2024
0.90
3
Identification and validation of a prognostic model based on immune-related genes in ovarian carcinoma.
PMID: 39494284
PeerJ · 2024
0.80
4
Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
PMID: 25448322
Autism Res · 2015
0.70
5
PC-TP/StARD2: Of membranes and metabolism.
PMID: 20338778
Trends Endocrinol Metab · 2010
0.60