Entity Details

Primary name MDHM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP40926
EntryNameMDHM_HUMAN
FullNameMalate dehydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length338
SequenceStatuscomplete
DateCreated1995-02-01
DateModified2021-06-02

Ontological Relatives

GenesMDH2

GO terms

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GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006094 gluconeogenesis
GO:0006099 tricarboxylic acid cycle
GO:0006107 oxaloacetate metabolic process
GO:0006108 malate metabolic process
GO:0006734 NADH metabolic process
GO:0009060 aerobic respiration
GO:0016020 membrane
GO:0030060 L-malate dehydrogenase activity
GO:0043621 protein self-association
GO:0046554 malate dehydrogenase (NADP+) activity
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR001236 Lactate/malate dehydrogenase, N-terminalDomainDomain
IPR001252 Malate dehydrogenase, active siteSiteActive site
IPR001557 L-lactate/malate dehydrogenaseFamilyFamily
IPR010097 Malate dehydrogenase, type 1FamilyFamily
IPR015955 Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminalFamilyHomologous superfamily
IPR022383 Lactate/malate dehydrogenase, C-terminalDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617339 OMIMDevelopmental and epileptic encephalopathy 51 (DEE51)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB04272 Citric acidDrugbanksmall molecule
DB09092 XanthinolDrugbanksmall molecule