Aliases for SLC27A2 Gene
- Solute Carrier Family 27 Member 2 2 3 4 5
- Solute Carrier Family 27 (Fatty Acid Transporter), Member 2 2 3
- Fatty-Acid-Coenzyme A Ligase, Very Long-Chain 1 3 4
- Very Long-Chain-Fatty-Acid-CoA Ligase 3 4
- Very Long-Chain Acyl-CoA Synthetase 3 4
- Long-Chain-Fatty-Acid--CoA Ligase 3 4
- Fatty Acid Transport Protein 2 3 4
- Arachidonate--CoA Ligase 3 4
- Phytanate--CoA Ligase 3 4
- THCA-CoA Ligase 3 4
- EC 126.96.36.199 4 52
- FACVL1 3 4
External Ids for SLC27A2 Gene
Previous HGNC Symbols for SLC27A2 Gene
Previous GeneCards Identifiers for SLC27A2 Gene
The protein encoded by this gene is an isozyme of 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 activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
GeneCards Summary for SLC27A2 Gene
SLC27A2 (Solute Carrier Family 27 Member 2) is a Protein Coding gene. Diseases associated with SLC27A2 include Adrenoleukodystrophy and Restrictive Dermopathy, Lethal. Among its related pathways are Innate Immune System and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A6.
UniProtKB/Swiss-Prot Summary for SLC27A2 Gene
Acyl CoA synthetase that activates long-chain and very long-chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl-CoA (PubMed:10198260, PubMed:10749848, PubMed:11980911). Can also activate branched-chain fatty acids such as phytanic acid and pristanic acid (PubMed:10198260). Does not activate C24 bile acids, cholate and chenodeoxycholate (PubMed:11980911). In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). Exhibits long-chain fatty acids (LCFA) transport activity and plays an important role in hepatic fatty acid uptake (PubMed:20530735).
Isoform 1 exhibits both long-chain fatty acids (LCFA) transport activity and acyl CoA synthetase towards very long-chain fatty acids (PubMed:21768100). Shows a preference for generating CoA derivatives of n-3 fatty acids, which are preferentially trafficked into phosphatidylinositol (PubMed:21768100).
Isoform 2 exhibits long-chain fatty acids (LCFA) transport activity but lacks acyl CoA synthetase towards very long-chain fatty acids.