ACSL1

Chr 4

acyl-CoA synthetase long chain family member 1

Also known as: ACS1, FACL1, FACL2, LACS, LACS1, LACS2

NCBI Gene: 2180 ENSG00000151726 UniProt: P33121 OMIM: 152425

ACSL1 encodes acyl-CoA synthetase long chain family member 1, which catalyzes the conversion of long-chain fatty acids to acyl-CoAs for lipid synthesis and beta-oxidation, with preference for palmitoleate, oleate, and linoleate. The gene is not highly constrained (pLI 0.002, LOEUF 0.476), and no established human disease associations are currently documented in the provided data.

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

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

185

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted