DLAT
Chr 11ARdihydrolipoamide S-acetyltransferase
Also known as: DLTA, E2, PBC, PDC-E2, PDCE2
Dihydrolipoamide acetyltransferase (E2 component) transfers acetyl groups from pyruvate to coenzyme A within the mitochondrial pyruvate dehydrogenase complex, which converts pyruvate to acetyl-CoA for energy metabolism. Autosomal recessive mutations cause pyruvate dehydrogenase E2 deficiency, resulting in primary lactic acidosis in infancy and early childhood due to impaired cellular energy production. The pathogenic mechanism involves defective mitochondrial pyruvate metabolism leading to lactate accumulation and metabolic acidosis.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
DLAT · 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