ACOT1 Chromosome 14
Acyl-CoA thioesterase 1
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What This Gene Does
Enables fatty acyl-CoA hydrolase activity. Involved in acyl-CoA metabolic process; long-chain fatty acid metabolic process; and very long-chain fatty acid metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Acyl-CoA thioesterases
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000184227
Associated Conditions (1)
Generalized hypotonia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200381634 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057519450 | Health Risk | Pathogenic | Generalized hypotonia, Generalized hypotonia |