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Gene: PDHX (pyruvate dehydrogenase complex component X) Homo sapiens
Symbol: PDHX
Name: pyruvate dehydrogenase complex component X
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex; DLDBP; E3BP; lipoyl-containing pyruvate dehydrogenase complex component X; OPDX; PDHXD; PDX1; proX; pyruvate dehydrogenase complex, component X; pyruvate dehydrogenase complex, E3-binding protein subunit; pyruvate dehydrogenase complex, lipoyl-containing component X; pyruvate dehydrogenase protein X component, mitochondrial
Mus musculus (house mouse) : Pdhx (pyruvate dehydrogenase complex, component X)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pdhx (pyruvate dehydrogenase complex, component X)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pdhx (pyruvate dehydrogenase complex component X)
Pan paniscus (bonobo/pygmy chimpanzee) : PDHX (pyruvate dehydrogenase complex component X)
Canis lupus familiaris (dog) : PDHX (pyruvate dehydrogenase complex component X)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pdhx (pyruvate dehydrogenase complex component X)
Sus scrofa (pig) : PDHX (pyruvate dehydrogenase complex component X)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381134,915,829 - 34,996,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371134,937,677 - 35,017,675 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361134,894,741 - 34,974,095 (+)NCBINCBI36hg18NCBI36
Build 341134,894,740 - 34,974,092NCBI
Celera1135,085,014 - 35,165,000 (+)NCBI
Cytogenetic Map11p13NCBI
HuRef1134,636,155 - 34,716,134 (+)NCBIHuRef
CHM1_11134,935,934 - 35,015,929 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on PDHX
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1352009
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.