ACSL3

Chr 2

acyl-CoA synthetase long chain family member 3

Also known as: ACS3, FACL3, LACS 3, LACS3, PRO2194

NCBI Gene: 2181 ENSG00000123983 UniProt: O95573 OMIM: 602371

ACSL3 encodes a long-chain fatty-acid-coenzyme A ligase that converts free fatty acids into fatty acyl-CoA esters for lipid biosynthesis and fatty acid degradation, with high expression in brain and preference for substrates including myristate and arachidonate. Mutations cause autosomal recessive intellectual disability with onset in infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.55), consistent with its role in brain lipid metabolism.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM 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)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted