rs200742124

This variant is located in the ACSL1 gene.

ClinVar annotation

Uncertain Significance★★★
2 submitters1 publication

not provided; not specified

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About ACSL1

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]

View all ACSL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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