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PHGDH

This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
Full Name
Phosphoglycerate Dehydrogenase
Function
Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate.
Biological Process
Brain developmentManual Assertion Based On ExperimentTAS:ProtInc
G1 to G0 transitionIEA:Ensembl
Gamma-aminobutyric acid metabolic processIEA:Ensembl
Glial cell developmentIEA:Ensembl
Glutamine metabolic processIEA:Ensembl
Glycine metabolic processIEA:Ensembl
L-serine biosynthetic processIEA:UniProtKB-KW
Neural tube developmentIEA:Ensembl
Neuron projection developmentIEA:Ensembl
Regulation of gene expressionIEA:Ensembl
Spinal cord developmentIEA:Ensembl
Taurine metabolic processIEA:Ensembl
Threonine metabolic processIEA:Ensembl
Cellular Location
cytosol
extracellular exosome
Involvement in disease
Phosphoglycerate dehydrogenase deficiency (PHGDHD):
An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures.
Neu-Laxova syndrome 1 (NLS1):
A lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies including lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.

Anti-PHGDH antibodies

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Target: PHGDH
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D3D5E
Application*: IF (IC)
Target: PHGDH
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D8F3O
Application*: WB, IP
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 4D5-1F11
Application*: WB, E
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYC-P348
Application*: WB, IP, P, F, IC, IF
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 5C4
Application*: P, WB
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 4A3-1D6
Application*: E, IF, P, IP, WB
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 4A1
Application*: WB
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 9E5
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 9E12
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 7B1
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 4D12
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 17C4
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 13H3
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 13A8
Application*: E, M
Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 11G10
Application*: E, M
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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