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SPR

This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
Full Name
Sepiapterin Reductase
Function
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
Biological Process
Biological Process nitric oxide biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process tetrahydrobiopterin biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytoplasm
Involvement in disease
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD):
A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
PTM
In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters.
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Anti-SPR antibodies

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SPR Matched Antibody Pair (1141) (APMAB-1141LY)

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Target: SPR
Specificity: Human
Datasheet SDS

SPR Matched Antibody Pair (1140) (APMAB-1140LY)

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Target: SPR
Specificity: Human
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (4F2) (CBMAB-A8567-LY)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 4F2
Application*: WB, E
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-2009) (CBMAB-S4776-CQ)

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Target: SPR
Host: Mouse
Specificity: Human
Clone: CBXS-2009
Application*: WB, IP, IF, E
Datasheet SDS

Rabbit Anti-SPR Recombinant Antibody (CBXS-1636) (CBMAB-S4485-CQ)

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Target: SPR
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXS-1636
Application*: WB, IP, P, F, IF
Datasheet SDS

Rabbit Anti-SPR Recombinant Antibody (CBXS-1635) (CBMAB-S4484-CQ)

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Target: SPR
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXS-1635
Application*: WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-5060) (CBMAB-S2281-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBXS-5060
Application*: E, IP, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-4861) (CBMAB-S2084-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXS-4861
Application*: F, IF, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-4848) (CBMAB-S2072-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Monkey
Clone: CBXS-4848
Application*: F, IF, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-4819) (CBMAB-S2044-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXS-4819
Application*: F, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-4753) (CBMAB-S1982-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Monkey
Clone: CBXS-4753
Application*: F, IF, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-4453) (CBMAB-S1695-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXS-4453
Application*: F, P, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-4118) (CBMAB-S1373-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Monkey
Clone: CBXS-4118
Application*: F, IF, WB
Datasheet SDS

Mouse Anti-SPR Recombinant Antibody (CBXS-5692) (CBMAB-S0562-CQ)

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Target: SPR
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat
Clone: CBXS-5692
Application*: WB, F, IH, IF, P
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
  • 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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