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Protein structure
PRPS1
Phosphoribosyl pyrophosphate synthetase 1CMTX5, DFN2, DFNX1
This gene encodes 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Top validated antibodies |
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| Proteintech Group |  15549-1-AP |
11 references | Polyclonal |
WB
EL
ICC
IP
IHC
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| Invitrogen Antibodies | 15549-1-AP |
Polyclonal |
WB
ICC
IP
IHC
OA
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| NovoPro Bioscience Inc. | 114237 |
Polyclonal |
WB
EL
ICC
IP
IHC
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| LSBio | LS-C402647 |
Polyclonal |
WB
EL
IHC
|
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| Cusabio Biotech Co., Ltd | CSB-PA018776GA01HU |
Polyclonal |
WB
EL
ICC
IHC
|
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