ACOT11
Chr 1acyl-CoA thioesterase 11
Also known as: BFIT, STARD14, THEA, THEM1
The protein is an acyl-CoA thioesterase that converts long-chain fatty acyl-CoA substrates (particularly palmitoyl-CoA and myristoyl-CoA) to free fatty acids and coenzyme A in the mitochondrial beta-oxidation pathway. Mutations cause autosomal recessive defects in fatty acid oxidation, typically presenting in infancy or early childhood with episodes of hypoglycemia, hepatomegaly, and metabolic decompensation during fasting or illness. The gene shows very low constraint against loss-of-function variants (LOEUF 1.08), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
263 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 183 | 6 | 0 | 189 |
Likely Benign | 2 | 13 | 3 | 0 | 18 |
Benign | 2 | 3 | 3 | 4 | 12 |
| Total | 4 | 199 | 25 | 4 | 232 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACOT11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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