Pyruvate dehydrogenase phosphatase

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Pyruvate dehyrogenase phosphatase catalytic subunit 1
Identifiers
Symbols PDP1 ; PDH; PDP; PDPC; PPM2C
External IDs OMIM605993 MGI2685870 HomoloGene31928 GeneCards: PDP1 Gene
EC number 3.1.3.43
Orthologs
Species Human Mouse
Entrez 54704 381511
Ensembl ENSG00000164951 ENSMUSG00000049225
UniProt Q9P0J1 Q3UV70
RefSeq (mRNA) NM_001161778 NM_001033453
RefSeq (protein) NP_001155251 NP_001028625
Location (UCSC) Chr 8:
94.87 – 94.94 Mb
Chr 4:
11.96 – 11.97 Mb
PubMed search [1] [2]

pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is an enzyme that in humans is encoded by the PDP1gene.[1][2] PDPC 1 is an enzyme which serves to reverse the effects of pyruvate dehydrogenase kinase upon pyruvate dehydrogenase.

Function[edit]

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 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.[1]

Clinical significance[edit]

Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency.[1]

References[edit]

  1. ^ a b c "Entrez Gene: pyruvate dehyrogenase phosphatase catalytic subunit 1". 
  2. ^ Lawson JE, Niu XD, Browning KS, Trong HL, Yan J, Reed LJ (September 1993). "Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C". Biochemistry 32 (35): 8987–93. doi:10.1021/bi00086a002. PMID 8396421. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.