FACL4/ACSL4 (ACSL4) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

ACSL4: 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). 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). A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis. Belongs to the ATP-dependent AMP-binding enzyme family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Ligase; EC 6.2.1.3; Membrane protein, integral; Lipid Metabolism - fatty acid

Chromosomal Location of Human Ortholog: Xq22.3-q23

Cellular Component: peroxisomal membrane; mitochondrial outer membrane; endoplasmic reticulum membrane; cell soma; membrane; cytoplasm; integral to membrane; lipid particle

Molecular Function: arachidonate-CoA ligase activity; very-long-chain-fatty-acid-CoA ligase activity; ATP binding; long-chain-fatty-acid-CoA ligase activity

Biological Process: embryonic process involved in female pregnancy; lipid biosynthetic process; triacylglycerol biosynthetic process; cellular lipid metabolic process; lipid metabolic process; long-chain fatty acid metabolic process; negative regulation of prostaglandin secretion; positive regulation of cell growth; response to nutrient; fatty acid transport

Disease: Mental Retardation, X-linked 63