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


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXS-5060
Antibody Isotype
IgG2a, κ
Application
ELISA, IP, WB

Basic Information

Immunogen
Partial recombinant corresponding to aa164-261 from human SPR (NP_003115) with GST tag
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.4
Concentration
0.5 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Sepiapterin Reductase
Introduction
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.
Entrez Gene ID
6697
UniProt ID
P35270
Alternative Names
Sepiapterin Reductase; Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase); Sepiapterin Reductase (L-Erythro-7,8-Dihydrobiopterin Forming); Short Chain Dehydrogenase/Reductase Family 38C, Member 1; EC 1.1.1.153; SDR38C1;
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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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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