Description
Product Characteristics:
PDHX is component X of the pyruvate dehydrogenase (PDH) complex.It is required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. PDHX is expressed in the mithochondrion.
Subcellular location: Cytoplasm
Synonyms: Dihydrolipoamide dehydrogenase binding protein of pyruvate dehydrogenase complex, Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex, DLDBP, E3 binding protein, E3-binding protein, E3BP, Lipoyl containing pyruvate dehydrogenase complex component X, Lipoyl-containing pyruvate dehydrogenase complex component X, mitochondrial, ODPX_HUMAN, OPDX, PDHX, PDX 1, PDX1, Pro X, ProX, Pyruvate dehydrogenase complex component X, Pyruvate dehydrogenase complex lipoyl containing component X, Pyruvate dehydrogenase complex, E3 binding protein subunit, Pyruvate dehydrogenase protein X component, Pyruvate dehydrogenase protein X component mitochondrial.
Target Information: The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit\, also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]