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.

Anti-SPR antibodies

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human, Rat

Clone: CBXS-5692

Application*: WB, F, IH, IF, P

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human, Monkey

Clone: CBXS-4118

Application*: F, IF, WB

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: CBXS-4453

Application*: F, P, WB

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human, Monkey

Clone: CBXS-4753

Application*: F, IF, WB

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: CBXS-4819

Application*: F, WB

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human, Monkey

Clone: CBXS-4848

Application*: F, IF, WB

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: CBXS-4861

Application*: F, IF, WB

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG2a, κ

Specificity: Human

Clone: CBXS-5060

Application*: E, IP, WB

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

Datasheet

SDS

Target: SPR

Host: Rabbit

Antibody Isotype: IgG

Specificity: Human

Clone: CBXS-1635

Application*: WB

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

Datasheet

SDS

Target: SPR

Host: Rabbit

Antibody Isotype: IgG

Specificity: Human

Clone: CBXS-1636

Application*: WB, IP, P, F, IF

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

Datasheet

SDS

Target: SPR

Host: Mouse

Specificity: Human

Clone: CBXS-2009

Application*: WB, IP, IF, E

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

Datasheet

SDS

Target: SPR

Host: Mouse

Antibody Isotype: IgG2a, κ

Specificity: Human

Clone: 4F2

Application*: WB, E

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

Datasheet

SDS

Target: SPR

Specificity: Human

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

Datasheet

SDS

Target: SPR

Specificity: Human

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)