ACOT7

Chr 1

acyl-CoA thioesterase 7

Also known as: ACH1, ACT, BACH, CTE-II, LACH, LACH1, hBACH

NCBI Gene: 11332 ENSG00000097021 UniProt: O00154

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.43

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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