rs782308462

This is a variant in the MDH2 gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Developmental and epileptic encephalopathy, 51 (DEE51); Infantile encephalopathy

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About MDH2

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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