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PDHX pyruvate dehydrogenase complex, component X [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001135024 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001166158 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_003477 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol PDHX
Entrez Gene ID 8050
Full Name pyruvate dehydrogenase complex, component X
Synonyms DLDBP, E3BP, OPDX, PDX1, proX
General protein information
Preferred Names
pyruvate dehydrogenase protein X component, mitochondrial
Names
pyruvate dehydrogenase protein X component, mitochondrial
pyruvate dehydrogenase complex, E3-binding protein subunit
lipoyl-containing pyruvate dehydrogenase complex component X
pyruvate dehydrogenase complex, lipoyl-containing component X
dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
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.[provided by RefSeq, Oct 2009].
Disorder

MIM: 608769

Lacticacidemia due to PDX1 deficiency, 245349 (3)

mRNA Protein Product Sequence Price Select
NM_001135024, 203098815 NP_001128496, 203098816 pyruvate dehydrogenase protein X component, mitochondrial isoform 2 ORF Sequence $550.00
NM_001166158, 260898738 NP_001159630, 260898739 pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor ORF Sequence $300.00
NM_003477, 203098752 NP_003468, 203098753 pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor ORF Sequence $550.00
WikiPathways
WP534Glycolysis and Gluconeogenesis
Reactome
REACT_12528Regulation of pyruvate dehydrogenase (PDH) complex
REACT_2071Pyruvate metabolism
REACT_1046Pyruvate metabolism and Citric Acid (TCA) cycle
REACT_111217Metabolism
REACT_111083The citric acid (TCA) cycle and respiratory electron transport
Homo sapiens (human)PDHXNP_003468.2
Pan troglodytes (chimpanzee)PDHXXP_001149489.1
Macaca mulatta (Rhesus monkey)PDHXXP_001109997.2
Canis lupus familiaris (dog)PDHXXP_533153.2
Bos taurus (cattle)LOC517402NP_001069219.1
Mus musculus (house mouse)PdhxNP_780303.1
Gallus gallus (chicken)PDHXNP_001026358.1
Danio rerio (zebrafish)pdhxNP_956854.1
Xenopus (Silurana) tropicalis (western clawed frog)pdhxXP_002937341.2
Process
IDNameEvidence
GO:0006090pyruvate metabolic processTAS
GO:0010510regulation of acetyl-CoA biosynthetic process from pyruvateTAS
GO:0044237cellular metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005759mitochondrial matrixTAS
Function
IDNameEvidence
GO:0016746transferase activity, transferring acyl groupsIEA
GeneCards PDHX
UniProt O00330
Vega OTTHUMG00000166491
MIM 608769
Ensembl ENSG00000110435
HGNC 21350
HPRD 02002

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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