Gene: MDH2
Alternate names for this Gene: DEE51|EIEE51|M-MDH|MDH|MGC:3559|MOR1
Gene 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.
Gene is located in Chromosome: 7
Location in Chromosome : 7q11.23
Description of this Gene: malate dehydrogenase 2
Type of Gene: protein-coding
rs1057519566 in
MDH2 gene and
Drug Resistant Epilepsy
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
rs375002796 in
MDH2 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
rs1057519566 in
MDH2 gene and
Encephalopathy, CTCAE 3.0
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
rs1057519566 in
MDH2 gene and
Generalized hypotonia
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
rs1057519566 in
MDH2 gene and
Global developmental delay
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
rs1057519566 in
MDH2 gene and
Infantile encephalopathy
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
rs1057519566 in
MDH2 gene and
Pediatric failure to thrive
PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.