MDH1

This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6.
Full Name
MDH1
Function
Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:3052244).

Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237).
Biological Process
Malate metabolic process Source: GO_Central
NADH metabolic process Source: GO_Central
Oxaloacetate metabolic process Source: GO_Central
Tricarboxylic acid cycle Source: GO_Central
Cellular Location
Cytoplasm
Involvement in disease
Developmental and epileptic encephalopathy 88 (DEE88):
A form of epileptic encephalopathy, a heterogeneous group of early-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. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly.
PTM
ISGylated.
Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation.
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Anti-MDH1 antibodies

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Mouse Anti-MDH1 Recombinant Antibody (2B11-B7) (CBMAB-A5358-LY)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 2B11-B7
Application*: WB, E
Datasheet SDS

Mouse Anti-MDH1 Recombinant Antibody (1D2) (CBMAB-A5357-LY)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 1D2
Application*: WB, E
Datasheet SDS

Mouse Anti-MDH1 Recombinant Antibody (CBFYM-1942) (CBMAB-M2116-FY)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYM-1942
Application*: E, P, WB
Datasheet SDS

Mouse Anti-MDH1 (AA 1-335) Recombinant Antibody (CBFYM-1941) (CBMAB-M2115-FY)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBFYM-1941
Application*: WB
Datasheet SDS

Mouse Anti-MDH1 Recombinant Antibody (CBFYM-1939) (CBMAB-M2113-FY)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-1939
Application*: E, WB
Datasheet SDS

Mouse Anti-MDH1 Recombinant Antibody (CBFYM-0612) (CBMAB-M0745-FY)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBFYM-0612
Application*: E, WB
Datasheet SDS

Mouse Anti-MDH1 Antibody (8BA30) (CBMAB-1425CQ)

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Target: MDH1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 8BA30
Application*: E, WB
Datasheet SDS

Rat Mdh1 ELISA Kit (V2LY-0626-LY2419)

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Target: Mdh1
Sensitivity: 1.355 mU/mL
Detection Range: 3-900 mU/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Rat
Assay Type: Sandwich
Reactivity: Rat
Datasheet SDS

Rat Recombinant MDH1 protein, His Tag (V2LY-0526-LY9520)

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Target: MDH1
Expressed Host: E. coli
Sequence: Amino Acid: 4-334
Tag: His Tag
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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