PDK3
Function
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.
Involvement in disease
Charcot-Marie-Tooth disease, X-linked dominant, 6
CMTX6
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PDK/BCKDK protein kinase family.
Tissue Specificity
Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain.
Cellular localization
- Mitochondrion matrix
Alternative names
PDHK3, PDK3, Pyruvate dehydrogenase kinase isoform 3