MDH2
Chr 7ARmalate dehydrogenase 2
Also known as: DEE51, EIEE51, M-MDH, MDH, MGC:3559, MOR1
Malate dehydrogenase 2 catalyzes the reversible oxidation of malate to oxaloacetate using NAD/NADH in the mitochondrial citric acid cycle and participates in the malate-aspartate shuttle for metabolic coordination between cytosol and mitochondria. Autosomal recessive mutations cause developmental and epileptic encephalopathy 51. The pathogenic mechanism appears to involve a dominant-negative effect despite the recessive inheritance pattern.
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
MDH2 · 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