PDHX pyruvate dehydrogenase complex, component X [Homo sapiens (human)]
| Gene Symbol | PDHX |
| Entrez Gene ID | 8050 |
| Full Name | pyruvate dehydrogenase complex, component X |
| Synonyms | DLDBP, E3BP, OPDX, PDX1, proX |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11p13 |
| 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. |
| Disorder | MIM: 608769 Lacticacidemia due to PDX1 deficiency, 245349 (3) |
| mRNA | NM_003477, 203098752 |
| Protein | NP_003468, 203098753 |
| Product | pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001135024, 203098815 |
| Protein | NP_001128496, 203098816 |
| Product | pyruvate dehydrogenase protein X component, mitochondrial isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001166158, 260898738 |
| Protein | NP_001159630, 260898739 |
| Product | pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor |
| RefSeq Status | REVIEWED |
| hsa01100 | Metabolic pathways |
WikiPathways
| WP78 | TCA Cycle |
| WP534 | Glycolysis and Gluconeogenesis |
Reactome
| REACT_1046 | Pyruvate metabolism and Citric Acid (TCA) cycle |
| REACT_2071 | Pyruvate metabolism |
| REACT_12528 | Regulation of pyruvate dehydrogenase (PDH) complex |
| Homo sapiens (human) | PDHX | NP_003468.2 |
| Pan troglodytes (chimpanzee) | PDHX | XP_001149409.1 |
| Canis lupus familiaris (dog) | PDHX | XP_857220.1 |
| Bos taurus (cattle) | PDHX | NP_001069219.1 |
| Mus musculus (house mouse) | Pdhx | NP_780303.1 |
| Rattus norvegicus (Norway rat) | Pdhx | XP_230327.3 |
| Gallus gallus (chicken) | PDHX | NP_001026358.1 |
| Danio rerio (zebrafish) | pdhx | NP_956854.1 |
| Arabidopsis thaliana (thale cress) | LTA3 | NP_190788.1 |
| ID | Name | Evidence |
| GO:0006090 | pyruvate metabolic process | TAS |
| GO:0008152 | metabolic process | IEA |
| GO:0010510 | regulation of acetyl-CoA biosynthetic process from pyruvate | EXP |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
Function
| ID | Name | Evidence |
| GO:0008415 | acyltransferase activity | IEA |
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