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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MDH1
malate dehydrogenase 1
Chromosome 2 · 2p15
NCBI Gene: 4190Ensembl: ENSG00000014641.21HGNC: HGNC:6970UniProt: A0A5K1VW95
123PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
NAD+ metabolic processmalate-aspartate shuttlecytosolGO:0005615developmental and epileptic encephalopathy, 88prostate carcinomaneurodegenerative diseaseasthma
✦AI Summary

MDH1 (malate dehydrogenase 1) is a cytosolic NAD(H)-dependent enzyme that catalyzes the reduction of aromatic alpha-keto acids and plays essential roles in the malate-aspartate shuttle and tricarboxylic acid cycle 123. The enzyme also catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, potentially elevating reactive oxygen species 4. MDH1 has emerged as a critical regulator in acute liver failure (ALF) pathophysiology. Post-translational deacetylation of MDH1 at K118 reduces its enzymatic activity and promotes neutrophil extracellular trap formation (NETosis), a novel cell death mechanism that drives ALF progression 56. This process involves activation of the cGAS-STING inflammatory pathway, with NET-derived DNA accumulation amplifying hepatocellular injury 7. Beyond ALF, MDH1 dysregulation associates with multiple pathologies. Elevated MDH1 expression correlates with poor cancer prognosis across malignancies and influences the tumor immune microenvironment by affecting macrophage biology 8. In neurodegenerative diseases, altered MDH1 plasma levels serve as a biomarker for Alzheimer's disease pathology and microglial activation states in frontotemporal dementia 910. MDH1 mutations have been linked to developmental and epileptic encephalopathy, though comprehensive functional characterization remains incomplete 11.

Sources cited
1
MDH1 catalyzes reduction of aromatic alpha-keto acids in presence of NADH
PMID: 2449162
2
MDH1 catalyzes reduction of aromatic alpha-keto acids in presence of NADH
PMID: 3052244
3
MDH1 plays essential roles in malate-aspartate shuttle and tricarboxylic acid cycle for mitochondrial NADH supply
PMID: 31538237
4
MDH1 catalyzes reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species
PMID: 34012073
5
MDH1 K118 deacetylation promotes NETosis and acute liver failure progression
PMID: 38172700
6
MDH1 deacetylation promotes NETosis by regulating autophagy and OPA1
PMID: 39353390
7
MDH1 deacetylation activates cGAS-STING pathway through NET formation in acute liver failure
PMID: 40388861
8
MDH1 overexpression associates with poor cancer prognosis and influences macrophage-mediated tumor microenvironment
PMID: 40948768
9
MDH1 is decreased in plasma of Alzheimer's disease patients with amyloid pathology
PMID: 39385222
10
MDH1 serves as a biomarker for microglial activation in frontotemporal dementia and Alzheimer's disease
PMID: 37775827
11
MDH1 mutations have been associated with cancer and neurodevelopmental disorders in humans
PMID: 39037390
Disease Associationsⓘ21
developmental and epileptic encephalopathy, 88Open Targets
0.50Moderate
prostate carcinomaOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.35Weak
asthmaOpen Targets
0.33Weak
bipolar disorderOpen Targets
0.29Weak
Myocardial IschemiaOpen Targets
0.27Weak
major depressive disorderOpen Targets
0.23Weak
neurotic disorderOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
heart conduction diseaseOpen Targets
0.17Weak
smoking initiationOpen Targets
0.16Weak
Bardet-Biedl syndromeOpen Targets
0.15Weak
smoking behaviorOpen Targets
0.14Weak
breast diseaseOpen Targets
0.13Weak
Abruptio PlacentaeOpen Targets
0.13Weak
dementiaOpen Targets
0.13Weak
extrapyramidal and movement diseaseOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.10Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
Developmental and epileptic encephalopathy 88UniProt
Pathogenic Variants1
NM_005917.4(MDH1):c.359C>T (p.Ala120Val)Pathogenic
Developmental and epileptic encephalopathy, 88
☆☆☆☆2021→ Residue 120
View on ClinVar ↗
Related Genes
MDH1BShared pathway57%MDH2Shared pathway44%ME1Shared pathway25%SUCLG1Shared pathway22%LDHBShared pathway22%FHShared pathway20%
Tissue Expression6 tissues
Heart
100%
Brain
23%
Liver
10%
Bone Marrow
6%
Lung
5%
Ovary
4%
Gene Interaction Network
Click a node to explore
MDH1MDH1BMDH2ME1SUCLG1LDHBFH
PROTEIN STRUCTURE
Preparing viewer…
PDB7RM9 · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.47Tolerant
Observed/Expected LoF0.39 [0.23–0.67]
RankingsWhere MDH1 stands among ~20K protein-coding genes
  • #3,827of 20,598
    Most Researched123 · top quartile
  • #4,830of 5,498
    Most Pathogenic Variants1
  • #4,986of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedMDH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IDH1/MDH1 deacetylation promotes acute liver failure by regulating NETosis.
PMID: 38172700
Cell Mol Biol Lett · 2024
1.00
2
High-dimensional proteomic analysis for pathophysiological classification of traumatic brain injury.
PMID: 39323289
Brain · 2025
0.90
3
Multi-analyte proteomic analysis identifies blood-based neuroinflammation, cerebrovascular and synaptic biomarkers in preclinical Alzheimer's disease.
PMID: 39385222
Mol Neurodegener · 2024
0.80
4
IDH1/MDH1 deacetylation promotes NETosis by regulating OPA1 and autophagy.
PMID: 39353390
Int Immunopharmacol · 2024
0.70
5
IDH1/MDH1 deacetylation activates the cGAS-STING pathway by promoting NETosis in acute liver failure.
PMID: 40388861
Int Immunopharmacol · 2025
0.60