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PNPO

PNPO catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy.

Full Name

Pyridoxamine 5'-Phosphate Oxidase

Function

Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).

Biological Process

Pyridoxal phosphate biosynthetic processManual Assertion Based On ExperimentIDA:CAFA
Pyridoxine biosynthetic processIEA:UniProtKB-KW

Cellular Location

Cytosol

Involvement in disease

Pyridoxine-5'-phosphate oxidase deficiency (PNPOD):
The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,.

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Anti-PNPO antibodies

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Mouse Anti-PNPO Recombinant Antibody (2C7) (CBMAB-P2279-YC)

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Target: PNPO

Host: Mouse

Antibody Isotype: IgG1, κ

Specificity: Human

Clone: 2C7

Application*: WB, E

Mouse Anti-PNPO Recombinant Antibody (1G9) (CBMAB-P2278-YC)

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Target: PNPO

Host: Mouse

Antibody Isotype: IgG2a

Specificity: Human

Clone: 1G9

Application*: WB, F, IH

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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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