ACOT9
Chr Xacyl-CoA thioesterase 9
Also known as: ACATE2, CGI-16, MT-ACT48, MTACT48
This mitochondrial acyl-CoA thioesterase catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A, regulating mitochondrial lipid and amino acid metabolism. Mutations cause autosomal recessive infantile-onset spinocerebellar ataxia, affecting the central nervous system with early childhood presentation. The gene is highly intolerant to loss-of-function variants, supporting its essential role in mitochondrial metabolism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
300 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 | 95 | 0 | 95 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 42 | 9 | 0 | 51 |
Likely Benign | 0 | 3 | 1 | 2 | 6 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 46 | 106 | 3 | 155 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACOT9 · 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