Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.Defects in ACSL4 are the cause of mental retardation X-linked type 63 (MRX63) [MIM:300387]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Defects in ACSL4 are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]. A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis.
Stoccaggio: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
Simbolo target: ACSL4
Ig target: ACS;ACSL;FACL;LACS;MRX;ACSL4;ACS4;FACL4;LACS4;MRX63;MRX68;ACS 4;ACSL 4;acyl CoA synthetase 4;Acyl CoA synthetase long chain family member 4;FACL 4;Fatty acid Coenzyme A ligase;fatty acid Coenzyme A ligase long-chain 4;LACS 4;Lignoceroyl CoA synthase;Long chain 4;long chain acyl CoA synthetase 4;long chain fatty acid CoA ligase 4;long chain fatty acid Coenzyme A ligase 4;Long-chain acyl-CoA synthetase 4;Long-chain-fatty-acid--CoA ligase 4
Area di ricerca:Signal Transduction
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