MDH2 Chromosome 7
Malate dehydrogenase 2
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What This Gene Does
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Malate dehydrogenases
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000146701
Associated Conditions (6)
Inborn genetic diseases
Developmental and epileptic encephalopathy
51
MDH2-related disorder
Infantile encephalopathy
1
Key Variants
RS1036456922
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 51
Health Risk
RS111879470
Conflicting classifications of pathogenicity
Inborn genetic diseases, MDH2-related disorder, Developmental and epileptic encephalopathy
Health Risk
RS139870141
Conflicting classifications of pathogenicity
Inborn genetic diseases, MDH2-related disorder, Developmental and epileptic encephalopathy
Health Risk
RS1797725670
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 51
Health Risk
RS372862264
Conflicting classifications of pathogenicity
Health Risk
RS375002796
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 51, Infantile encephalopathy
Health Risk
RS375592605
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS530213856
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS553033389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 51
Health Risk
RS574256155
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 51, Developmental and epileptic encephalopathy
Health Risk
RS781834910
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 51
Health Risk
RS782408477
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 51
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1036456922 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 51 |
| RS111879470 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MDH2-related disorder, Developmental and epileptic encephalopathy |
| RS139870141 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MDH2-related disorder, Developmental and epileptic encephalopathy |
| RS1797725670 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 51 |
| RS372862264 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375002796 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 51, Infantile encephalopathy |
| RS375592605 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS530213856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS553033389 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 51 |
| RS574256155 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 51, Developmental and epileptic encephalopathy |
| RS781834910 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 51 |
| RS782408477 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 51 |
| RS782756337 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1324318602 | Health Risk | Likely pathogenic | — |
| RS2116673209 | Health Risk | Likely pathogenic | — |
| RS2535869499 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS782048786 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 51, Developmental and epileptic encephalopathy |
| RS1057519566 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 51, Infantile encephalopathy |
| RS1057519567 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 51, Infantile encephalopathy |
| RS1470974118 | Health Risk | Pathogenic | — |
| RS2116696690 | Health Risk | Pathogenic | — |
| RS2535864023 | Health Risk | Pathogenic | — |
| RS2535869544 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS782251807 | Health Risk | Pathogenic | — |
| RS782308462 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 51, Developmental and epileptic encephalopathy |
| RS782494815 | Health Risk | Pathogenic | — |
| RS782759642 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 51 |