PDP1 Chromosome 8
Pyruvate dehydrogenase phosphatase catalytic subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
Protein phosphatases, Mg2+/Mn2+ dependent
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000164951
Associated Conditions (2)
Pyruvate dehydrogenase phosphatase deficiency
Inborn genetic diseases
Key Variants
RS140713866
Conflicting classifications of pathogenicity
Health Risk
RS201081450
Conflicting classifications of pathogenicity
Health Risk
RS202145000
Conflicting classifications of pathogenicity
Health Risk
RS768767735
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase phosphatase deficiency, Inborn genetic diseases, Pyruvate dehydrogenase phosphatase deficiency
Health Risk
RS1057524261
Likely pathogenic
Health Risk
RS1554572659
Likely pathogenic
Health Risk
RS1810312864
Likely pathogenic
Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency
Health Risk
RS1554572756
Pathogenic
Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency
Health Risk
RS267606938
Pathogenic
Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140713866 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201081450 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202145000 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768767735 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase phosphatase deficiency, Inborn genetic diseases, Pyruvate dehydrogenase phosphatase deficiency |
| RS1057524261 | Health Risk | Likely pathogenic | — |
| RS1554572659 | Health Risk | Likely pathogenic | — |
| RS1810312864 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency |
| RS1554572756 | Health Risk | Pathogenic | Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency |
| RS267606938 | Health Risk | Pathogenic | Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency |