The ACOT7 gene is located on chromosome 1 at the band 1p36.31 and spans approximately 130,000 base pairs . The gene encodes multiple isoforms through alternative splicing, which results in distinct proteins with different subcellular localizations . The primary structure of ACOT7 includes a catalytic domain responsible for its hydrolase activity, which is essential for breaking down fatty acyl-CoA esters into free fatty acids and Coenzyme A (CoASH) .
ACOT7 is involved in various biological processes, including:
ACOT7 is ubiquitously expressed in various tissues, with high expression levels in the brain, particularly in regions such as the thalamus, prefrontal cortex, and hippocampus . The enzyme is found in multiple subcellular locations, including the cytosol, mitochondria, and peroxisomes . Its presence in these organelles suggests a role in both energy production and lipid metabolism.
Altered expression of ACOT7 has been associated with certain medical conditions. For instance, decreased expression of ACOT7 may be linked to mesial temporal lobe epilepsy, a neurological disorder characterized by recurrent seizures originating from the temporal lobe of the brain . Additionally, the enzyme’s role in lipid metabolism and energy production makes it a potential target for therapeutic interventions in metabolic disorders .
Human recombinant ACOT7 is used in research to study its enzymatic properties, regulatory mechanisms, and potential therapeutic applications. Recombinant proteins are produced through genetic engineering techniques, allowing scientists to investigate the enzyme’s structure-function relationships and its role in various biological processes .