Gene Symbol | ACSL4 |
Entrez Gene ID | 2182 |
Full Name | acyl-CoA synthetase long chain family member 4 |
Synonyms | ACS4,FACL4,LACS4,MRX63,MRX68 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked 63, 300387 (3) |