DISEASES

Disease-gene associations mined from literature

Literature associating PDK3 and Charcot-Marie-Tooth disease X-linked dominant 6

PDK3 [ENSP00000387536]

[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species.

Synonyms:  PDK3,  PDK3p,  hPDK3,  PDK3-001,  PDK3-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM