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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

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

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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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