E3BP Antibody – Rabbit Polyclonal

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]

PDHX: a mitochondrial protein required for anchoring dihydrolipoamide dehydrogenase (E3) to the pyruvate dehydrogenase complexes (PDHC) of eukaryotes. This specific binding is essential for a PDHC function. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase (E2), around which are arranged multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide dehydrogenase (E3), and protein X bound by non-covalent bonds. Belongs to the 2-oxoacid dehydrogenase family. Contains 1 lipoyl-binding domain.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 11p13

Cellular Component: mitochondrial matrix

Molecular Function: transferase activity, transferring acyl groups

Biological Process: cellular metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; pyruvate metabolic process

Disease: Pyruvate Dehydrogenase E3-binding Protein Deficiency