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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PDK3
pyruvate dehydrogenase kinase 3
Chromosome X Β· Xp22.11
NCBI Gene: 5165Ensembl: ENSG00000067992.18HGNC: HGNC:8811UniProt: Q15120
80PubMed Papers
21Diseases
1Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein serine/threonine kinase activitypyruvate dehydrogenase (acetyl-transferring) kinase activityprotein bindingCharcot-Marie-Tooth disease X-linked dominant 6X-linked Charcot-Marie-Tooth disease type 6lactic acidosispyruvate dehydrogenase deficiency
✦AI Summary

PDK3 (pyruvate dehydrogenase kinase 3) is a mitochondrial serine/threonine kinase that inhibits pyruvate dehydrogenase activity through phosphorylation of the E1 subunit PDHA1, thereby regulating glucose metabolism and aerobic respiration [UniProt]. The enzyme decreases glucose utilization and increases fat metabolism during prolonged fasting and adaptation to high-fat diets, playing a critical role in glucose homeostasis [UniProt]. PDK3 also contributes to reactive oxygen species generation [UniProt]. In cancer metabolism, PDK3 emerges as a key metabolic regulator. NCAPD3 recruits E2F1 to PDK3 promoter regions, upregulating PDK3 expression and inhibiting pyruvate dehydrogenase (PDH) activity and the TCA cycle, thereby enhancing aerobic glycolysis in colorectal cancer 1. In cancer cachexia, IL-6-JAK-STAT signaling induces hepatic PDK3 expression, driving gluconeogenesis and contributing to tumor-induced metabolic dysregulation 2. PDK3 downregulation suppresses glycolysis and reduces tumor growth in head and neck cancer models 3. Clinically, PDK3 mutations cause X-linked dominant Charcot-Marie-Tooth disease type 6 [NCBI Summary]. A chromosome X;13 balanced translocation disrupted PDK3 function through distinct molecular mechanisms requiring multi-omic integration to resolve the associated Mendelian condition 4. These findings identify PDK3 as both a metabolic regulator and a disease-associated gene with implications for cancer and neuromuscular disorders.

Sources cited
1
PDK3 is recruited by E2F1 and NCAPD3 to its promoter, upregulating PDK3 expression which inhibits PDH activity and TCA cycle in colorectal cancer, promoting aerobic glycolysis
PMID: 35689245
2
IL-6-JAK-STAT signaling induces hepatic PDK3 expression in cancer cachexia models, driving gluconeogenesis and metabolic dysfunction
PMID: 40275022
3
PDK3 expression is significantly reduced by momordicine-I treatment in head and neck cancer, correlating with suppressed glycolysis and reduced tumor growth
PMID: 39696286
4
PDK3 function was disrupted by a chromosome X;13 balanced translocation in a patient with a Mendelian condition, with the disruption involving distinct molecular mechanisms
PMID: 39880924
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Charcot-Marie-Tooth disease X-linked dominant 6Open Targets
0.57Moderate
X-linked Charcot-Marie-Tooth disease type 6Open Targets
0.53Moderate
lactic acidosisOpen Targets
0.28Weak
pyruvate dehydrogenase deficiencyOpen Targets
0.26Weak
nervous system diseaseOpen Targets
0.21Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
PainOpen Targets
0.18Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.17Weak
glioblastoma multiformeOpen Targets
0.10Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
heart diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
pulmonary arterial hypertensionOpen Targets
0.04Suggestive
pulmonary hypertensionOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
Charcot-Marie-Tooth disease, X-linked dominant, 6UniProt
Pathogenic Variants1
NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)Pathogenic
Charcot-Marie-Tooth disease X-linked dominant 6
β˜†β˜†β˜†β˜†2019β†’ Residue 232
View on ClinVar β†—
Drug Targets1
SODIUM DICHLOROACETATEPhase III
Pyruvate dehydrogenase kinase inhibitor
lactic acidosis
Related Genes
DLDProtein interaction94%PDHBProtein interaction94%SMPXProtein interaction91%ITGB1BP2Protein interaction83%DLATProtein interaction80%PDHXProtein interaction79%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
87%
Brain
71%
Lung
53%
Liver
37%
Ovary
33%
Gene Interaction Network
Click a node to explore
PDK3DLDPDHBSMPXITGB1BP2DLATPDHX
PROTEIN STRUCTURE
Preparing viewer…
PDB1Y8O Β· 2.48 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.65Intermediate
Observed/Expected LoF0.37 [0.24–0.61]
RankingsWhere PDK3 stands among ~20K protein-coding genes
  • #5,951of 20,598
    Most Researched80
  • #4,965of 5,498
    Most Pathogenic Variants1
  • #4,206of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedPDK3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 34138529
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
NCAPD3 enhances Warburg effect through c-myc and E2F1 and promotes the occurrence and progression of colorectal cancer.
PMID: 35689245
J Exp Clin Cancer Res Β· 2022
0.80
4
Hepatic gluconeogenesis and PDK3 upregulation drive cancer cachexia in flies and mice.
PMID: 40275022
Nat Metab Β· 2025
0.70
5
Snake venom protection by a cocktail of varespladib and broadly neutralizing human antibodies.
PMID: 40318633
Cell Β· 2025
0.60