DLAT Human
Description
Product Specs
DLAT is supplied in a solution containing 20mM HEPES buffer (pH 8.0), 200mM NaCl, and 20% glycerol.
For short-term storage (2-4 weeks), DLAT should be kept at 4°C. For extended storage, it should be frozen at -20°C. Repeated freezing and thawing should be avoided.
Product Science Overview
DLAT is responsible for the acetyltransferase activity within the PDC. It accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. This process is essential for the production of acetyl-CoA, a key molecule in the citric acid cycle, which is vital for energy production in cells .
The enzyme has distinct domains, including lipoyl, subunit-binding, and catalytic domains. These domains facilitate its function within the PDC, ensuring efficient catalysis of the necessary reactions .
The gene encoding DLAT is located on chromosome 11 in humans. Mutations in this gene can lead to pyruvate dehydrogenase E2 deficiency, which causes primary lactic acidosis in infancy and early childhood . This condition is characterized by an inability to convert pyruvate to acetyl-CoA, leading to an accumulation of lactate in the body.
DLAT is also the antigen for antimitochondrial antibodies, which are present in nearly 95% of patients with primary biliary cirrhosis (PBC). PBC is an autoimmune liver disease where activated T lymphocytes attack and destroy epithelial cells in the bile duct, leading to cirrhosis and liver failure .
Recombinant DLAT is produced using genetic engineering techniques, where the DLAT gene is cloned and expressed in a suitable host organism, such as bacteria or yeast. This allows for the production of large quantities of the enzyme for research and therapeutic purposes.
Recombinant DLAT retains the functional properties of the native enzyme, making it a valuable tool for studying the enzyme’s role in metabolism and its involvement in various diseases. It is also used in the development of potential treatments for conditions associated with DLAT deficiency .
Research on DLAT has provided insights into its structure, function, and role in cellular metabolism. Studies have shown that DLAT is crucial for the regulation of pyruvate metabolism and glycolysis, highlighting its importance in energy production .
Recombinant DLAT is used in various biochemical assays to study its activity and interactions with other components of the PDC. It is also employed in drug development to identify potential inhibitors or activators of the enzyme, which could be used to treat metabolic disorders .
