Recombinant Human PDHX

Background

PDHX is a component of the pyruvate dehydrogenase complex (PDC) located in the mitochondrial matrix, where it plays a critical role in linking glycolysis to the tricarboxylic acid (TCA) cycle by catalyzing the conversion of pyruvate to acetyl-CoA. PDHX functions as the E3-binding protein, anchoring dihydrolipoamide dehydrogenase (E3) to the PDC core and facilitating the transfer of reducing equivalents between PDC subunits. It is essential for the stability and activity of the PDC, ensuring efficient energy production and metabolic homeostasis. Mutations in PDHX are associated with pyruvate dehydrogenase deficiency, a condition characterized by lactic acidosis, developmental delay, and neurological dysfunction due to impaired mitochondrial energy metabolism. PDHX is expressed ubiquitously in energy-demanding tissues such as the brain, muscle, and liver, where it supports ATP production and metabolic adaptation. Knockout studies demonstrate reduced PDC activity, metabolic imbalances, and severe defects in energy-dependent processes, underscoring its importance in cellular respiration and energy metabolism.