L2HGDH

L2HGDH is a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene lead to L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability.
Full Name
L2HGDH
Biological Process
2-oxoglutarate metabolic processTAS:Reactome
Small molecule metabolic processManual Assertion Based On ExperimentIDA:HGNC-UCL
Cellular Location
Mitochondrion
Involvement in disease
L-2-hydroxyglutaric aciduria (L2HGA):
A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid.
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Anti-L2HGDH antibodies

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Mouse Anti-L2HGDH Recombinant Antibody (CBYJL-1033) (CBMAB-L0445-YJ)

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Target: L2HGDH
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Pig
Clone: CBYJL-1033
Application*: E, IH, WB
Datasheet SDS

Mouse Anti-L2HGDH Recombinant Antibody (A852) (CBMAB-AP11298LY)

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Target: L2HGDH
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: A852
Application*: ELISA, IHC, WB
Datasheet SDS
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For Research Use Only. Not For Clinical Use.
(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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