Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially activates 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.
相似性
Belongs to the ATP-dependent AMP-binding enzyme family.
功能
Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.