PDHX
Chr 11ARpyruvate dehydrogenase complex component X
Also known as: DLDBP, E3BP, OPDX, PDHXD, PDX1, proX
The PDHX protein serves as the E3 binding protein that anchors dihydrolipoamide dehydrogenase to the core of the mitochondrial pyruvate dehydrogenase complex, which is essential for converting pyruvate to acetyl-CoA and linking glycolysis to the Krebs cycle. Autosomal recessive mutations cause pyruvate dehydrogenase deficiency presenting with neurological dysfunction and lactic acidosis in infancy and early childhood.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PDHX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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