PDP1
Function
Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA.
Involvement in disease
Pyruvate dehydrogenase phosphatase deficiency
PDP deficiency
Results in lactic acidosis leading to neurological dysfunction.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PP2C family.
Cellular localization
- Mitochondrion
Alternative names
PDP, PPM2C, PDP1, PDP 1, Protein phosphatase 2C, Pyruvate dehydrogenase phosphatase catalytic subunit 1, PDPC 1