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Aliases for PDHX Gene

Aliases for PDHX Gene

  • Pyruvate Dehydrogenase Complex Component X 2 3 5
  • Dihydrolipoamide Dehydrogenase-Binding Protein Of Pyruvate Dehydrogenase Complex 3 4
  • Lipoyl-Containing Pyruvate Dehydrogenase Complex Component X 3 4
  • E3BP 3 4
  • PDX1 3 4
  • ProX 3 4
  • Pyruvate Dehydrogenase Complex, Lipoyl-Containing Component X 3
  • Pyruvate Dehydrogenase Complex, E3-Binding Protein Subunit 3
  • Pyruvate Dehydrogenase Complex, Component X 3
  • E3-Binding Protein 4
  • DLDBP 3
  • OPDX 3

External Ids for PDHX Gene

Previous GeneCards Identifiers for PDHX Gene

  • GC11P034977
  • GC11P034902
  • GC11P034636

Summaries for PDHX Gene

Entrez Gene Summary for PDHX Gene

  • 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]

GeneCards Summary for PDHX Gene

PDHX (Pyruvate Dehydrogenase Complex Component X) is a Protein Coding gene. Diseases associated with PDHX include Lacticacidemia Due To Pdx1 Deficiency and Primary Biliary Cirrhosis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glyoxylate metabolism and glycine degradation. GO annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is DBT.

UniProtKB/Swiss-Prot for PDHX Gene

  • Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.

Gene Wiki entry for PDHX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDHX Gene

Genomics for PDHX Gene

Regulatory Elements for PDHX Gene

Enhancers for PDHX Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDHX on UCSC Golden Path with GeneCards custom track

Promoters for PDHX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDHX on UCSC Golden Path with GeneCards custom track

Genomic Location for PDHX Gene

34,915,829 bp from pter
35,020,591 bp from pter
104,763 bases
Plus strand

Genomic View for PDHX Gene

Genes around PDHX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDHX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDHX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDHX Gene

Proteins for PDHX Gene

  • Protein details for PDHX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pyruvate dehydrogenase protein X component, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DW62
    • D3DR11
    • E9PB14
    • E9PBP7
    • O60221
    • Q96FV8
    • Q99783

    Protein attributes for PDHX Gene

    501 amino acids
    Molecular mass:
    54122 Da
    Quaternary structure:
    • Part of the inner core of the multimeric pyruvate dehydrogenase complex that is composed of about 48 DLAT and 12 PDHX molecules. This core binds multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). Interacts with SIRT4 (PubMed:25525879).

    Three dimensional structures from OCA and Proteopedia for PDHX Gene

    Alternative splice isoforms for PDHX Gene


neXtProt entry for PDHX Gene

Proteomics data for PDHX Gene at MOPED

Post-translational modifications for PDHX Gene

  • Delipoylated at Lys-97 by SIRT4, delipoylation decreases the PHD complex activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PDHX

No data available for DME Specific Peptides for PDHX Gene

Domains & Families for PDHX Gene

Suggested Antigen Peptide Sequences for PDHX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 lipoyl-binding domain.
  • Belongs to the 2-oxoacid dehydrogenase family.
  • Contains 1 lipoyl-binding domain.
  • Belongs to the 2-oxoacid dehydrogenase family.
genes like me logo Genes that share domains with PDHX: view

No data available for Gene Families for PDHX Gene

Function for PDHX Gene

Molecular function for PDHX Gene

UniProtKB/Swiss-Prot Function:
Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.

Gene Ontology (GO) - Molecular Function for PDHX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034604 contributes_to pyruvate dehydrogenase (NAD+) activity IDA 9242632
genes like me logo Genes that share ontologies with PDHX: view
genes like me logo Genes that share phenotypes with PDHX: view

Human Phenotype Ontology for PDHX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PDHX Gene

Localization for PDHX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDHX Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for PDHX Gene COMPARTMENTS Subcellular localization image for PDHX gene
Compartment Confidence
mitochondrion 5
nucleus 3
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for PDHX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PDHX: view

Pathways & Interactions for PDHX Gene

genes like me logo Genes that share pathways with PDHX: view

Gene Ontology (GO) - Biological Process for PDHX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS --
GO:0044237 cellular metabolic process TAS --
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with PDHX: view

No data available for SIGNOR curated interactions for PDHX Gene

Drugs & Compounds for PDHX Gene

(11) Drugs for PDHX Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 906
Trilostane Approved, Investigational, Withdrawn Pharma 2
Proline betaine Experimental Pharma Target 0
Trimethyl Glycine Experimental Pharma Target 0
AGI-6780 Pharma IDH2/R140Q mutation inhibitor 0

(6) Additional Compounds for PDHX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-lipoic acid
  • (+)-alpha-Lipoic acid
  • (R)-(+)-lipoic acid
  • (R)-1,2-Dithiolane-3-pentanoic acid
  • (R)-1,2-dithiolane-3-valeric acid
  • (R)-6,8-thioctic acid

(7) ApexBio Compounds for PDHX Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with PDHX: view

Transcripts for PDHX Gene

Unigene Clusters for PDHX Gene

Pyruvate dehydrogenase complex, component X:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDHX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - -
SP2: - - - - - - - - -
SP3: - -

Relevant External Links for PDHX Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDHX Gene

mRNA expression in normal human tissues for PDHX Gene

mRNA differential expression in normal tissues according to GTEx for PDHX Gene

This gene is overexpressed in Muscle - Skeletal (x4.7) and Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for PDHX Gene

This gene is overexpressed in Heart (22.6) and Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDHX Gene

SOURCE GeneReport for Unigene cluster for PDHX Gene Hs.502315

genes like me logo Genes that share expression patterns with PDHX: view

Protein tissue co-expression partners for PDHX Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PDHX Gene

Orthologs for PDHX Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PDHX Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LOC517402 35
  • 88.96 (n)
  • 88.22 (a)
  • 88 (a)
(Canis familiaris)
Mammalia PDHX 35
  • 90.02 (n)
  • 90.22 (a)
  • 90 (a)
(Mus musculus)
Mammalia Pdhx 35
  • 83.43 (n)
  • 84.77 (a)
Pdhx 16
Pdhx 36
  • 85 (a)
(Pan troglodytes)
Mammalia PDHX 35
  • 99.67 (n)
  • 99.6 (a)
  • 100 (a)
(Monodelphis domestica)
Mammalia PDHX 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia PDHX 36
  • 76 (a)
(Gallus gallus)
Aves PDHX 35
  • 72.79 (n)
  • 72.24 (a)
  • 70 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 79 (a)
-- 36
  • 52 (a)
-- 36
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdhx 35
  • 63.89 (n)
  • 63.29 (a)
(Danio rerio)
Actinopterygii pdhx 35
  • 58.68 (n)
  • 58.82 (a)
zgc66110 35
pdhx 36
  • 55 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5261 36
  • 34 (a)
(Caenorhabditis elegans)
Secernentea C30H6.7 36
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAT1 36
  • 32 (a)
PDX1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5274 36
  • 46 (a)
Species with no ortholog for PDHX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDHX Gene

Gene Tree for PDHX (if available)
Gene Tree for PDHX (if available)

Paralogs for PDHX Gene

Paralogs for PDHX Gene

(1) SIMAP similar genes for PDHX Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PDHX: view

Variants for PDHX Gene

Sequence variations from dbSNP and Humsavar for PDHX Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_046619 -
rs11539202 - 34,947,565(+) TGGTT(A/G)CCTTA reference, missense
rs17850649 - 34,984,655(+) AACAG(A/T)TAAAG reference, missense
rs520658 -- 34,939,361(-) GTCTT(C/T)GCTTA intron-variant
rs522436 -- 34,945,742(-) AAAAA(A/C/G)TTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDHX Gene

Variant ID Type Subtype PubMed ID
nsv832119 CNV Gain 17160897
esv34511 CNV Loss 17911159
essv22260 CNV CNV 17122850
nsv437715 CNV Loss 16327808
nsv518924 CNV Loss 19592680
nsv437716 CNV Loss 16327808
nsv825836 CNV Loss 20364138
nsv897215 CNV Loss 21882294

Variation tolerance for PDHX Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.57; 86.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDHX Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDHX Gene

Disorders for PDHX Gene

MalaCards: The human disease database

(8) MalaCards diseases for PDHX Gene - From: ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lacticacidemia due to pdx1 deficiency
  • lipoamide dehydrogenase deficiency
primary biliary cirrhosis
  • biliary liver cirrhosis
pyruvate dehydrogenase e1-alpha deficiency
  • pyruvate decarboxylase deficiency
lactic acidosis
  • acidosis lactic
ulnar neuropathy
  • ulnar neuropathy [ambiguous]
- elite association - COSMIC cancer census association via MalaCards
Search PDHX in MalaCards View complete list of genes associated with diseases


  • Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]: A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation. {ECO:0000269 PubMed:9399911}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PDHX Gene

severe developmental delay and mental retardation

Relevant External Links for PDHX

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PDHX: view

Publications for PDHX Gene

  1. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. (PMID: 9467010) Ling M. … Robinson B.H. (Hum. Mol. Genet. 1998) 2 3 4 23 67
  2. How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PMID: 16263718) Ciszak E.M. … Patel M.S. (J. Biol. Chem. 2006) 3 23
  3. Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. (PMID: 16442803) Brautigam C.A. … Chuang D.T. (Structure 2006) 3 23
  4. Leigh's disease due to a new mutation in the PDHX gene. (PMID: 16566017) Schiff M. … Ogier de Baulny H. (Ann. Neurol. 2006) 3 23
  5. PDC-E3BP is not a dominant T-cell autoantigen in primary biliary cirrhosis. (PMID: 16629643) McHugh A. … Jones D.E. (Liver Int. 2006) 3 23

Products for PDHX Gene

Sources for PDHX Gene