The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH ... See more...

Aliases for PDK3 Gene

Aliases for PDK3 Gene

  • Pyruvate Dehydrogenase Kinase 3 2 3 5
  • [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 3, Mitochondrial 3 4
  • Pyruvate Dehydrogenase Kinase, Isoenzyme 3 2 3
  • Pyruvate Dehydrogenase Kinase, Isozyme 3 2 3
  • EC 2.7.11.2 4 52
  • Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial 3
  • Pyruvate Dehydrogenase Kinase Isoform 3 4
  • GS1-358P8.4 3
  • CMTX6 3
  • PDHK3 4

External Ids for PDK3 Gene

Previous GeneCards Identifiers for PDK3 Gene

  • GC0XP023311
  • GC0XP023142
  • GC0XP023685
  • GC0XP023844
  • GC0XP024243
  • GC0XP024393
  • GC0XP022225

Summaries for PDK3 Gene

Entrez Gene Summary for PDK3 Gene

  • The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for PDK3 Gene

PDK3 (Pyruvate Dehydrogenase Kinase 3) is a Protein Coding gene. Diseases associated with PDK3 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 and Charcot-Marie-Tooth Disease. Among its related pathways are Signaling by Retinoic Acid and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include protein kinase activity and pyruvate dehydrogenase (acetyl-transferring) kinase activity. An important paralog of this gene is PDK1.

UniProtKB/Swiss-Prot Summary for PDK3 Gene

  • Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species.

Gene Wiki entry for PDK3 Gene

Additional gene information for PDK3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDK3 Gene

Genomics for PDK3 Gene

GeneHancer (GH) Regulatory Elements for PDK3 Gene

Promoters and enhancers for PDK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ024464 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 510.4 +0.7 680 3.8 ZNF217 ZSCAN5C USF1 POLR2G ZBTB5 POLR2A ZBTB10 ZBTB26 HES1 MYC PDK3 SNRPEP9
GH0XJ024477 Enhancer 1 FANTOM5 ENCODE 9.6 +14.6 14557 4.9 ZBTB40 ZSCAN5C SIN3A CLOCK FOS TRIM28 POLR2A ZNF316 MAFF USF2 PDK3 ZFX SNRPEP9
GH0XJ024493 Enhancer 1 Ensembl ENCODE 8.4 +29.7 29680 3.4 ZSCAN5C USF1 TRIM28 ZBTB7A FOXA2 OSR2 SIN3A MYNN SP2 ZBTB17 PDK3 SNRPEP9
GH0XJ024491 Enhancer 0.8 Ensembl ENCODE 9.4 +26.8 26779 0.8 ZNF217 ZFX RFX1 CTBP1 ZNF316 NEUROD1 NFE2 GATA3 FOXA1 DPF2 PDK3 SAT1 SNRPEP9
GH0XJ024424 Enhancer 0.9 Ensembl ENCODE 7.5 -38.6 -38564 5.1 ZNF217 SIX5 ZBTB25 HCFC1 MBD2 SAP130 ZFHX2 CREM DRAP1 FOS PDK3 piR-47410-015 RF00017-8245
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDK3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDK3

Top Transcription factor binding sites by QIAGEN in the PDK3 gene promoter:
  • AhR
  • AP-2gamma
  • AREB6
  • Arnt
  • C/EBPbeta
  • CUTL1
  • FOXL1
  • FOXO4
  • POU6F1 (c2)
  • Sox9

Genomic Locations for PDK3 Gene

Genomic Locations for PDK3 Gene
chrX:24,465,221-24,550,466
(GRCh38/hg38)
Size:
85,246 bases
Orientation:
Plus strand
chrX:24,483,338-24,568,583
(GRCh37/hg19)
Size:
85,246 bases
Orientation:
Plus strand

Genomic View for PDK3 Gene

Genes around PDK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDK3 Gene

Proteins for PDK3 Gene

  • Protein details for PDK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15120-PDK3_HUMAN
    Recommended name:
    [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial
    Protein Accession:
    Q15120
    Secondary Accessions:
    • B4DXG6

    Protein attributes for PDK3 Gene

    Size:
    406 amino acids
    Molecular mass:
    46939 Da
    Quaternary structure:
    • Homodimer. Interacts with the pyruvate dehydrogenase complex subunit DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3).

    Three dimensional structures from OCA and Proteopedia for PDK3 Gene

    Alternative splice isoforms for PDK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDK3 Gene

Selected DME Specific Peptides for PDK3 Gene

Q15120:
  • HIGSIDP
  • YFQGDLKLYS
  • YMYSTAP
  • NACEKTS
  • VYVPSHL
  • GGGVPLR
  • ELPVRLAN
  • IYLKALS
  • QYFLDRFY
  • SRLYARYF
  • GYGLPISRLYA

Post-translational modifications for PDK3 Gene

  • Ubiquitination at Lys30
  • Modification sites at PhosphoSitePlus

Other Protein References for PDK3 Gene

Domains & Families for PDK3 Gene

Gene Families for PDK3 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PDK3 Gene

Blocks:
  • ATP-binding region, ATPase-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDK3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60191, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 3 (EC 2.7.11.2) (B4DXG6_HUMAN)
  • Pyruvate dehydrogenase kinase isoform 3 (PDK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15120

UniProtKB/Swiss-Prot:

PDK3_HUMAN :
  • Belongs to the PDK/BCKDK protein kinase family.
Family:
  • Belongs to the PDK/BCKDK protein kinase family.
genes like me logo Genes that share domains with PDK3: view

Function for PDK3 Gene

Molecular function for PDK3 Gene

UniProtKB/Swiss-Prot Function:
Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[pyruvate dehydrogenase E1 alpha subunit]-L-serine + ATP = [pyruvate dehydrogenase E1 alpha subunit]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:23052, Rhea:RHEA-COMP:13689, Rhea:RHEA-COMP:13690, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.2; Evidence={ECO:0000269 PubMed:10748134, ECO:0000269 PubMed:11486000, ECO:0000269 PubMed:16436377};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by interaction with DLAT. Inhibited by AZD7545, dichloroacetate and radicicol.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD.

Enzyme Numbers (IUBMB) for PDK3 Gene

Gene Ontology (GO) - Molecular Function for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 15861126
GO:0004674 protein serine/threonine kinase activity IDA 11486000
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity TAS,IDA 11486000
GO:0005515 protein binding IPI 15861126
GO:0005524 ATP binding IEA,IDA 15861126
genes like me logo Genes that share ontologies with PDK3: view
genes like me logo Genes that share phenotypes with PDK3: view

Human Phenotype Ontology for PDK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PDK3

CRISPR Products

miRNA for PDK3 Gene

miRTarBase miRNAs that target PDK3

Clone Products

  • Addgene plasmids for PDK3

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for PDK3 Gene

Localization for PDK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDK3 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDK3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion TAS,IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PDK3: view

Pathways & Interactions for PDK3 Gene

genes like me logo Genes that share pathways with PDK3: view

Pathways by source for PDK3 Gene

SIGNOR curated interactions for PDK3 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS,IMP --
GO:0010906 regulation of glucose metabolic process IMP 22865452
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PDK3: view

Drugs & Compounds for PDK3 Gene

(6) Drugs for PDK3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydrolipoate Experimental Pharma Target 0
Radicicol Experimental Pharma Target ATPase/kinase inhibitor, Hsp90 inhibitor. Antifungal antibiotic 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
CPI-613 Investigational Pharma PDH/α-KGDH inhibitor 0
AZD7545 Pharma PDHK inhibitor,potent and selective 0

(3) Additional Compounds for PDK3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2

(1) ApexBio Compounds for PDK3 Gene

Compound Action Cas Number
AZD7545 PDHK inhibitor,potent and selective 252017-04-2
genes like me logo Genes that share compounds with PDK3: view

Drug Products

Transcripts for PDK3 Gene

mRNA/cDNA for PDK3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for PDK3

Alternative Splicing Database (ASD) splice patterns (SP) for PDK3 Gene

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

Relevant External Links for PDK3 Gene

GeneLoc Exon Structure for
PDK3

Expression for PDK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDK3 Gene

This gene is overexpressed in Whole Blood (x7.0) and Artery - Tibial (x4.6).

Protein differential expression in normal tissues from HIPED for PDK3 Gene

This gene is overexpressed in Fetal testis (13.2), Peripheral blood mononuclear cells (10.9), and Salivary gland (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDK3 Gene



Protein tissue co-expression partners for PDK3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDK3

SOURCE GeneReport for Unigene cluster for PDK3 Gene:

Hs.296031

mRNA Expression by UniProt/SwissProt for PDK3 Gene:

Q15120-PDK3_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain.

Evidence on tissue expression from TISSUES for PDK3 Gene

  • Liver(4.3)
  • Skin(4)
  • Nervous system(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDK3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PDK3: view

Orthologs for PDK3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDK3 31 30
  • 99.51 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDK3 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDK3 31 30
  • 92.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDK3 31 30
  • 92.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdk3 30
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Pdk3 17 31 30
  • 89.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDK3 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDK3 31 30
  • 81.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDK3 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdk3 30
  • 76.49 (n)
zebrafish
(Danio rerio)
Actinopterygii pdk3b 31
  • 80 (a)
OneToMany
pdk3a 31 30
  • 73.02 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pdk 31 32 30
  • 57.66 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010276 30
  • 57.07 (n)
worm
(Caenorhabditis elegans)
Secernentea pdhk-2 31 30
  • 57.12 (n)
OneToMany
ZK370.5 32
  • 53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27423g 30
  • 49.22 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER270W 30
  • 46.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PKP1 31
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PDK 30
  • 49.9 (n)
soybean
(Glycine max)
eudicotyledons Gma.3204 30
rice
(Oryza sativa)
Liliopsida Os07g0637300 30
  • 51.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pkp1 30
  • 51.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06760 30
  • 51.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3938 31
  • 47 (a)
OneToMany
Species where no ortholog for PDK3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDK3 Gene

ENSEMBL:
Gene Tree for PDK3 (if available)
TreeFam:
Gene Tree for PDK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDK3: view image

Paralogs for PDK3 Gene

Paralogs for PDK3 Gene

(3) SIMAP similar genes for PDK3 Gene using alignment to 1 proteins:

  • PDK3_HUMAN

Pseudogenes.org Pseudogenes for PDK3 Gene

genes like me logo Genes that share paralogs with PDK3: view

Variants for PDK3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDK3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
648471 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,503,492(+) C/T SYNONYMOUS_VARIANT
650052 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,505,285(+) G/A SYNONYMOUS_VARIANT
650892 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,503,480(+) C/T SYNONYMOUS_VARIANT
657567 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,527,634(+) A/G MISSENSE_VARIANT
696106 Benign: not provided 24,534,000(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PDK3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PDK3 Gene

Variant ID Type Subtype PubMed ID
dgv2239e212 CNV loss 25503493
dgv2240e212 CNV loss 25503493
nsv1119632 CNV deletion 24896259
nsv472183 CNV novel sequence insertion 20440878
nsv474045 CNV novel sequence insertion 20440878

Variation tolerance for PDK3 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDK3 Gene

Human Gene Mutation Database (HGMD)
PDK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDK3 Gene

Disorders for PDK3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PDK3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDK3_HUMAN
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. {ECO:0000269 PubMed:23297365}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PDK3

genes like me logo Genes that share disorders with PDK3: view

No data available for Genatlas for PDK3 Gene

Publications for PDK3 Gene

  1. Diversity of the pyruvate dehydrogenase kinase gene family in humans. (PMID: 7499431) Gudi R … Popov KM (The Journal of biological chemistry 1995) 2 3 4 23 54
  2. Induction of pyruvate dehydrogenase kinase-3 by hypoxia-inducible factor-1 promotes metabolic switch and drug resistance. (PMID: 18718909) Lu CW … Tsai SJ (The Journal of biological chemistry 2008) 3 4 23 54
  3. Crystal structure of an asymmetric complex of pyruvate dehydrogenase kinase 3 with lipoyl domain 2 and its biological implications. (PMID: 17532006) Devedjiev Y … Vassylyev DG (Journal of molecular biology 2007) 3 4 23 54
  4. Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex. (PMID: 15861126) Kato M … Chuang DT (The EMBO journal 2005) 3 4 23 54
  5. Interaction between the individual isoenzymes of pyruvate dehydrogenase kinase and the inner lipoyl-bearing domain of transacetylase component of pyruvate dehydrogenase complex. (PMID: 11978179) Tuganova A … Popov KM (The Biochemical journal 2002) 3 4 23 54

Products for PDK3 Gene

Sources for PDK3 Gene