Sequence in raw or FASTA format:
PDHX pyruvate dehydrogenase complex, component X [Homo sapiens (human)]
|Entrez Gene ID||8050|
|Full Name||pyruvate dehydrogenase complex, component X|
|Synonyms||DLDBP, E3BP, OPDX, PDX1, proX|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Lacticacidemia due to PDX1 deficiency, 245349 (3)
|WP534||Glycolysis and Gluconeogenesis|
|REACT_12528||Regulation of pyruvate dehydrogenase (PDH) complex|
|REACT_1046||Pyruvate metabolism and Citric Acid (TCA) cycle|
|REACT_111083||The citric acid (TCA) cycle and respiratory electron transport|
|Homo sapiens (human)||PDHX||NP_003468.2|
|Pan troglodytes (chimpanzee)||PDHX||XP_001149489.1|
|Macaca mulatta (Rhesus monkey)||PDHX||XP_001109997.2|
|Canis lupus familiaris (dog)||PDHX||XP_533153.2|
|Bos taurus (cattle)||LOC517402||NP_001069219.1|
|Mus musculus (house mouse)||Pdhx||NP_780303.1|
|Gallus gallus (chicken)||PDHX||NP_001026358.1|
|Danio rerio (zebrafish)||pdhx||NP_956854.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||pdhx||XP_002937341.2|
|GO:0006090||pyruvate metabolic process||TAS|
|GO:0010510||regulation of acetyl-CoA biosynthetic process from pyruvate||TAS|
|GO:0044237||cellular metabolic process||TAS|
|GO:0044281||small molecule metabolic process||TAS|
|GO:0016746||transferase activity, transferring acyl groups||IEA|
What is the normal function of the PDHX gene?
The PDHX gene provides instructions for making a protein called E3 binding protein, which is part of a large group of proteins known as the pyruvate dehydrogenase complex. This complex is made up of several enzymes, including one called E3, and other proteins. E3 binding protein attaches E3 to the complex and provides the correct structure for the complex to perform its function.
The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This enzyme converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.
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