Aliases for ACSL4 Gene
External Ids for ACSL4 Gene
Previous HGNC Symbols for ACSL4 Gene
Previous GeneCards Identifiers for ACSL4 Gene
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 preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for ACSL4 Gene
ACSL4 (Acyl-CoA Synthetase Long-Chain Family Member 4) is a Protein Coding gene. Diseases associated with ACSL4 include Non-Syndromic X-Linked Intellectual Disability and Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Peroxisome. GO annotations related to this gene include long-chain fatty acid-CoA ligase activity and arachidonate-CoA ligase activity. An important paralog of this gene is ACSL3.
UniProtKB/Swiss-Prot for ACSL4 Gene
Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.