This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PUS1-20-RE | 20 (40 μL) | 200 μL |  |
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| PUS1-20-OR | 20 (40 μL) | 200 μL |  |
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| PUS1-20-GO | 20 (40 μL) | 200 μL |  |
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| PUS1-20-GR | 20 (40 μL) | 200 μL |  |
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| PUS1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Gene Symbol : PUS1
Gene Name : Pseudouridylate synthase 1
Chromosome : CHR 12: 131,929,199-131,944,039
Locus : 12q24.33
Alt. Genes : ARPC2
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