ACAA2 Human

The ACAA2 gene is located on chromosome 18 at the band 18q21.1 . It encodes a protein that is approximately 41.9 kDa in size and consists of 397 amino acids . The protein contains a non-cleavable amino-terminal targeting signal, which is uncommon among mitochondrial matrix proteins .

The primary function of Acetyl-CoA Acyltransferase 2 is to catalyze the final step of the mitochondrial fatty acid beta-oxidation spiral . This process involves the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms . Additionally, ACAA2 can catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA, which is a key step in the production of ketone bodies .

ACAA2 is vital for maintaining cellular energy homeostasis, especially during periods of fasting or increased energy demand . It has also been shown to interact with BNIP3, a protein involved in apoptosis, suggesting a link between fatty acid metabolism and cell death .

While no direct mutations or variants in the ACAA2 gene have been linked to specific clinical diseases, the locus has been associated with abnormal blood lipid levels, particularly HDL and LDL cholesterol levels . This association indicates a potential role in the risk for coronary artery disease .

Human recombinant Acetyl-CoA Acyltransferase 2 is produced using recombinant DNA technology, which involves inserting the human ACAA2 gene into a suitable expression system, such as bacteria or yeast. This allows for the large-scale production of the enzyme for research and therapeutic purposes.