PDK1

pyruvate dehydrogenase kinase 1

Details

HGNC: HGNC:8809
GeneCards: PDK1
NCBI: 5163
Ensembl: ENSG00000152256
UniProt: Q15118
OMIM: 602524
UCSC: uc002uhs.5
VEGA: OTTHUMG00000132285
ENA: L42450
Alias Symbols: None
Previous Symbols: None
Alias Names: None
Previous Names: "pyruvate dehydrogenase kinase, isoenzyme 1", "pyruvate dehydrogenase kinase, isozyme 1"

Associated Studies

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

2022 | Karczewski, Konrad J.; Solomonson, Matthew; Chao, Katherine R.; Goodrich, Julia K.; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M.; Tsai, Ellen A.; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A. Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G.; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I.; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S.; Churchhouse, Claire; Howrigan, Daniel P.; Zhou, Wei; Watts, Nicholas A.; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D.; Gupta, Namrata; MacArthur, Daniel G.; Rehm, Heidi L.; Seed, Cotton; Philippakis, Anthony A.; Daly, Mark J.; Davis, J. Wade; Runz, Heiko; Miller, Melissa R.; Neale, Benjamin M.

Associated cohorts
Phenotype: ME/CFS

Metabolic profiling indicates impaired pyruvate dehydrogenase function in myalgic encephalopathy/chronic fatigue syndrome

2016 | Fluge, Øystein; Mella, Olav; Bruland, Ove; Risa, Kristin; Dyrstad, Sissel E.; Alme, Kine; Rekeland, Ingrid G.; Sapkota, Dipak; Røsland, Gro V.; Fosså, Alexander; Ktoridou-Valen, Irini; Lunde, Sigrid; Sørland, Kari; Lien, Katarina; Herder, Ingrid; Thürmer, Hanne; Gotaas, Merete E.; Baranowska, Katarzyna A.; Bohnen, Louis M.L.J.; Schäfer, Christoph; McCann, Adrian; Sommerfelt, Kristian; Helgeland, Lars; Ueland, Per M.; Dahl, Olav; Tronstad, Karl J.

Associated cohorts
Phenotype: ME/CFS, ME/CFS - Canadian Consensus Criteria (CCC), Post-exertional malaise (PEM)