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.
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Anti-PHGDH antibodies

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Rabbit Anti-PHGDH Recombinant Antibody (D3D5E) (CBMAB-CP1954-LY)

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Target: PHGDH
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D3D5E
Application*: IF (IC)
Datasheet SDS

Rabbit Anti-PHGDH Recombinant Antibody (D8F3O) (CBMAB-CP1953-LY)

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Target: PHGDH
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D8F3O
Application*: WB, IP
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (4D5-1F11) (CBMAB-A6634-LY)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 4D5-1F11
Application*: WB, E
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (CBYC-P348) (CBMAB-P1677-YC)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYC-P348
Application*: WB, IP, P, F, IC, IF
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (5C4) (CBMAB-P1676-YC)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 5C4
Application*: P, WB
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (4A3-1D6) (CBMAB-P1675-YC)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 4A3-1D6
Application*: E, IF, P, IP, WB
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (4A1) (CBMAB-P1674-YC)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 4A1
Application*: WB
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (9E5) (CBMAB-0829-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 9E5
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (9E12) (CBMAB-0828-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 9E12
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (7B1) (CBMAB-0827-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 7B1
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (4D12) (CBMAB-0826-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 4D12
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (17C4) (CBMAB-0825-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 17C4
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (13H3) (CBMAB-0824-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 13H3
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (13A8) (CBMAB-0818-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 13A8
Application*: E, M
Datasheet SDS

Mouse Anti-PHGDH Recombinant Antibody (11G10) (CBMAB-0817-CN)

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Target: PHGDH
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 11G10
Application*: E, M
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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