MDH2

Chr 7AR

malate dehydrogenase 2

Also known as: DEE51, EIEE51, M-MDH, MDH, MGC:3559, MOR1

NCBI Gene: 4191 ENSG00000146701 UniProt: P40926 OMIM: 154100

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 51MIM #617339

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MDH2