Gene Symbol | MDH2 |
Entrez Gene ID | 4191 |
Full Name | malate dehydrogenase 2 |
Synonyms | EIEE51,M-MDH,MDH,MGC:3559,MOR1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 51, 617339 (3) |