Identity
HGNC
LOCATION
Xp22.11
LOCUSID
ALIAS
CMTX6,GS1-358P8.4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5165
MIM: 300906
HGNC: 8811
Ensembl: ENSG00000067992
Variants:
dbSNP: 5165
ClinVar: 5165
TCGA: ENSG00000067992
COSMIC: PDK3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000067992 | ENST00000379162 | Q15120 |
| ENSG00000067992 | ENST00000568479 | Q15120 |
| ENSG00000067992 | ENST00000648777 | Q15120 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37849068 | 2023 | Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families. | 0 |
| 37849068 | 2023 | Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families. | 0 |
| 34387338 | 2021 | Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. | 3 |
| 34387338 | 2021 | Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. | 3 |
| 30578412 | 2020 | Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia. | 22 |
| 31982536 | 2020 | Effect of pH on the structure and function of pyruvate dehydrogenase kinase 3: Combined spectroscopic and MD simulation studies. | 7 |
| 32504000 | 2020 | Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. | 13 |
| 30578412 | 2020 | Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia. | 22 |
| 31982536 | 2020 | Effect of pH on the structure and function of pyruvate dehydrogenase kinase 3: Combined spectroscopic and MD simulation studies. | 7 |
| 32504000 | 2020 | Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. | 13 |
| 31244938 | 2019 | Metabolic enzyme PDK3 forms a positive feedback loop with transcription factor HSF1 to drive chemoresistance. | 27 |
| 31409724 | 2019 | miR-497-5p inhibits gastric cancer cell proliferation and growth through targeting PDK3. | 24 |
| 31244938 | 2019 | Metabolic enzyme PDK3 forms a positive feedback loop with transcription factor HSF1 to drive chemoresistance. | 27 |
| 31409724 | 2019 | miR-497-5p inhibits gastric cancer cell proliferation and growth through targeting PDK3. | 24 |
| 26801680 | 2016 | X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. | 4 |
Citation
Dessen P
PDK3 (pyruvate dehydrogenase kinase 3)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43406/pdk3
