PDHX Human
Description
Product Specs
Product Science Overview
The Pyruvate Dehydrogenase Complex (PDH complex) is a crucial enzyme complex in cellular metabolism, playing a pivotal role in converting pyruvate into acetyl-CoA, thereby linking glycolysis to the Krebs cycle. One of the essential components of this complex is the Pyruvate Dehydrogenase Complex, Component X (PDHX), also known as the E3 binding protein (E3BP).
The PDH complex is located in the mitochondrial matrix and consists of multiple subunits, including three catalytic subunits (E1, E2, and E3), two regulatory subunits (E1 kinase and E1 phosphatase), and a non-catalytic subunit, E3BP . The PDHX gene encodes the E3BP, which tethers E3 dimers to the E2 core of the PDH complex . This interaction is crucial for the proper functioning of the PDH complex.
The PDHX gene is located on chromosome 11p13 and spans approximately 86.7 kb, containing 11 exons . The gene encodes a protein of 501 amino acids, which includes a lipoyl-bearing domain and an E3-binding domain . The expression of PDHX is highest in human skeletal and cardiac muscles but is also present at lower levels in other tissues .
Mutations in the PDHX gene can lead to pyruvate dehydrogenase deficiency, a metabolic disorder characterized by neurological dysfunction and lactic acidosis in infancy and early childhood . This deficiency results from the inability of the PDH complex to convert pyruvate into acetyl-CoA, leading to an accumulation of pyruvate and lactate in the body.
Additionally, the E3BP is a minor antigen for antimitochondrial antibodies, which are present in nearly 95% of patients with primary biliary cirrhosis (PBC), an autoimmune liver disease . In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct, where this protein is abnormally distributed and overexpressed, eventually leading to cirrhosis and liver failure .
Human recombinant PDHX is produced using recombinant DNA technology, which involves inserting the PDHX gene into a suitable expression system, such as bacteria or yeast, to produce the protein in large quantities. This recombinant protein is used in various research applications, including studying the structure and function of the PDH complex, investigating the molecular mechanisms underlying PDHX-related diseases, and developing potential therapeutic interventions.
