PDHX (NM_003477) Human Recombinant Protein

• Background:

  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]

• Synonyms:

  DLDBP; E3BP; OPDX; PDHXD; PDX1; proX

• Gene ID:

  8050

• UniProt:

  O00330

• Accession Number mRNA:

  NM_003477

• Chromosomal Location:

  11p13

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Molecular Weight:

  53.9 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  PDHX

• Species:

  Human

• Protein ID:

  NP_003468

• Overview:

  Recombinant protein of human pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/8050

• Uniprot URL:

  https://www.uniprot.org/uniprot/O00330

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_003477

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_003468