Aliases for PDP1 Gene
External Ids for PDP1 Gene
Previous HGNC Symbols for PDP1 Gene
Previous GeneCards Identifiers for PDP1 Gene
Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
GeneCards Summary for PDP1 Gene
PDP1 (Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with PDP1 include Pyruvate Dehydrogenase Phosphatase Deficiency and Atypical Autism. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include protein serine/threonine phosphatase activity and [pyruvate dehydrogenase (lipoamide)] phosphatase activity. An important paralog of this gene is PDP2.
UniProtKB/Swiss-Prot for PDP1 Gene
Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.