The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PKLR-20-RE | 20 (40 μL) | 200 μL |  |
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| PKLR-20-OR | 20 (40 μL) | 200 μL |  |
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| PKLR-20-GO | 20 (40 μL) | 200 μL |  |
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| PKLR-20-GR | 20 (40 μL) | 200 μL |  |
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| PKLR-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : PKLR
Gene Name : Pyruvate kinase L/R
Chromosome : CHR 1: 155,301,433-155,289,292
Locus : 1q22
Alt. Genes : RASA4
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