PKLR : pyruvate kinase L/R
Description
The PKLR (pyruvate kinase L/R) is a protein-coding gene located on chromosome 1.
The PKLR gene is active in the liver and red blood cells, where it provides instructions for producing pyruvate kinase. This enzyme is essential for glycolysis, a process that breaks down glucose to produce energy. Pyruvate kinase facilitates the final step of glycolysis, transferring a phosphate group from phosphoenolpyruvate to ADP, resulting in pyruvate and ATP. ATP is the cell's primary energy source.
Pyruvate kinase catalyzes the conversion of phosphoenolpyruvate to pyruvate, generating ATP in the process. This enzymatic reaction is crucial for glycolysis, the primary pathway for energy production in cells.
PKLR is also known as PK1, PKL, PKRL, RPK.
Associated Diseases
- Adenosine triphosphate, elevated, of erythrocytes
- Pyruvate kinase deficiency of red cells
- Hemolytic anemia due to red cell pyruvate kinase deficiency
- Pyruvate kinase deficiency
