RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase is - Protein

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Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families. [J Peripher Nerv Syst. 2023]
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
Maciel VAZ, Maximiano-Alves G, Frezatti RSS, Alves ALM, Andrade BMA, Leal RCC, Tomaselli PJ, Reilly MM, Marques W. J Peripher Nerv Syst. 2023 Dec; 28(4):614-619. Epub 2023 Nov 6.
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. [Hum Mol Genet. 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.
Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML. Hum Mol Genet. 2021 Dec 17; 31(1):133-145.
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. [Sci Rep. 2020]
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.
Perez-Siles G, Cutrupi A, Ellis M, Screnci R, Mao D, Uesugi M, Yiu EM, Ryan MM, Choi BO, Nicholson G, et al. Sci Rep. 2020 Jun 5; 10(1):9262. Epub 2020 Jun 5.

RefSeq genomic sequence
See the genomic reference sequence for the PDK3 gene (NG_016762.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the PDK3 gene.

PubMed
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Taxonomy
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Related Structures (List)
List of related structures

Q15120 [Domain Mapping of Disease Mut...]
Q15120
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, m...
RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; AltName: Full=Pyruvate dehydrogenase kinase isoform 3; Flags: Precursor
gi|3183119|sp|Q15120.1|PDK3_HUMAN

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