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PKLR
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Proximal tubular cells, Late spermatids, Erythroid cells, Hepatocytes, Proximal enterocytes, Early spermatids)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enriched (K-562)
Interaction
Homotetramer.
Molecular function
Allosteric enzyme, Kinase, Transferase
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Mouse, Rat, Human
- Type: IgG
- Application: WB, IHC-P
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For Research Use Only. Not For Clinical Use.