PDP1
Chr 8ARpyruvate dehydrogenase phosphatase catalytic subunit 1
Also known as: PDH, PDP, PDPC, PDPC 1, PPM2A, PPM2C
The pyruvate dehydrogenase phosphatase catalytic subunit dephosphorylates and activates the E1 component of the pyruvate dehydrogenase complex, which is essential for converting pyruvate to acetyl-CoA in mitochondrial energy metabolism. Mutations cause pyruvate dehydrogenase phosphatase deficiency with autosomal recessive inheritance. This disorder affects cellular energy production and typically involves neurological manifestations due to impaired mitochondrial function.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
gnomad: Error: Service overloaded
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
247 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 40 | 0 | 40 |
Likely Pathogenic | 3 | 0 | 2 | 0 | 5 |
VUS | 2 | 95 | 10 | 0 | 107 |
Likely Benign | 0 | 0 | 7 | 76 | 83 |
Benign | 0 | 0 | 4 | 0 | 4 |
Conflicting | — | 4 | |||
| Total | 5 | 95 | 63 | 76 | 243 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools