ACOT7
Chr 1acyl-CoA thioesterase 7
Also known as: ACH1, ACT, BACH, CTE-II, LACH, LACH1, hBACH
The protein catalyzes the hydrolysis of acyl-CoAs (particularly palmitoyl-CoA) into free fatty acids and coenzyme A, regulating intracellular levels of these metabolites in fatty acid metabolism. Mutations cause autosomal recessive neurodegeneration with brain atrophy, characterized by developmental delay, intellectual disability, seizures, and progressive brain volume loss. The gene is highly constrained against loss-of-function variants, and decreased expression has been associated with mesial temporal lobe epilepsy.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACOT7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools