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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PRPS1-20-RE | 20 (40 μL) | 200 μL |  |
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| PRPS1-20-OR | 20 (40 μL) | 200 μL |  |
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| PRPS1-20-GO | 20 (40 μL) | 200 μL |  |
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| PRPS1-20-GR | 20 (40 μL) | 200 μL |  |
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| PRPS1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PRPS1
Gene Name : Phosphoribosyl pyrophosphate synthetase 1
Chromosome : CHR X: 107,628,423-107,651,025
Locus : Xq22.3
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