PKLR gene

The PKLR gene contains instructions for making the enzyme pyruvate kinase, which plays a vital role in how our red blood cells produce energy. This enzyme helps convert sugars into energy necessary for the cells to function properly. Mutations in the PKLR gene can impair this process, sometimes causing conditions like hemolytic anemia, where red blood cells break down prematurely. Essentially, the PKLR gene is essential for maintaining healthy red blood cell energy metabolism, supporting their ability to carry oxygen throughout the body effectively.