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Mouse Anti-PRPS1 Recombinant Antibody (15B54) (CBMAB-P3028-YC)

Provided herein is a Mouse monoclonal antibody against Human Phosphoribosyl Pyrophosphate Synthetase 1. The antibody can be used for immunoassay techniques, such as ELISA, WB.
See all PRPS1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
15B54
Antibody Isotype
IgG
Application
ELISA, WB

Basic Information

Immunogen
Recombinant protein corresponding to aa1-318 from human PRPS1 expressed in E. coli
Specificity
Human
Antibody Isotype
IgG
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 in PBS, pH 7.4, 0.02% sodium azide, 10% glycerol
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
Phosphoribosyl Pyrophosphate Synthetase 1
Introduction
PRPS1 is an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome.
Entrez Gene ID
5631
UniProt ID
P60891
Alternative Names
ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I; PRSI
Function
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
Biological Process
5-phosphoribose 1-diphosphate biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Hypoxanthine biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
PhosphorylationIEA:UniProtKB-KW
Purine nucleobase metabolic processManual Assertion Based On ExperimentIMP:UniProtKB
Purine nucleotide biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Pyrimidine nucleotide biosynthetic process1 PublicationNAS:UniProtKB
Ribonucleoside monophosphate biosynthetic processIEA:InterPro
Urate biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
cytoplasm
cytosol
ribose phosphate diphosphokinase complex
Involvement in disease
Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity):
Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.
Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5):
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
ARTS syndrome (ARTS):
A disorder characterized by intellectual disability, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.
Deafness, X-linked, 1 (DFNX1):
A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.
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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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