ACSL4

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Acyl-CoA synthetase long-chain family member 4
Identifiers
Symbols ACSL4 ; ACS4; FACL4; LACS4; MRX63; MRX68
External IDs OMIM300157 MGI1354713 HomoloGene56282 GeneCards: ACSL4 Gene
EC number 6.2.1.3
RNA expression pattern
PBB GE ACSL4 202422 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2182 50790
Ensembl ENSG00000068366 ENSMUSG00000031278
UniProt O60488 Q9QUJ7
RefSeq (mRNA) NM_004458 NM_001033600
RefSeq (protein) NP_004449 NP_001028772
Location (UCSC) Chr X:
108.87 – 108.98 Mb
Chr X:
142.32 – 142.39 Mb
PubMed search [1] [2]

Long-chain-fatty-acid—CoA ligase 4 is an enzyme that in humans is encoded by the ACSL4 gene.[1][2][3]

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 2 transcript variants.[3]

References[edit]

  1. ^ Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A (Apr 1998). "FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation". Genomics 47 (3): 350–8. doi:10.1006/geno.1997.5104. PMID 9480748. 
  2. ^ Verot L, Alloisio N, Morle L, Bozon M, Touraine R, Plauchu H, Edery P (Sep 2003). "Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24". Am J Med Genet A 122A (1): 37–41. doi:10.1002/ajmg.a.20221. PMID 12949969. 
  3. ^ a b "Entrez Gene: ACSL4 acyl-CoA synthetase long-chain family member 4". 

Further reading[edit]