PDK3, pyruvate dehydrogenase kinase 3, 5165

N. diseases: 51; N. variants: 1
Disease: Peripheral Nervous System Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515323
rs397515323
Entrez Id: 5165
Gene Symbol: PDK3
PDK3
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE Our findings suggest a reduced pyruvate flux due to R158H mutant PDK3-mediated hyper-phosphorylation of the PDC as the underlying pathogenic cause of peripheral neuropathy. 23297365 2013