PKLR gene (pyruvate kinase liver and red blood cell)

The PKLR gene provides instructions for making the enzyme called pyruvate kinase, which is crucial for energy production in red blood cells and liver cells. This enzyme helps convert sugar (glucose) into energy by a step in cell metabolism. Proper functioning of PKLR ensures red blood cells can produce enough energy to carry oxygen efficiently, and the liver can also metabolize sugars properly. Mutations in this gene can impair enzyme activity, leading to conditions like hemolytic anemia, where red blood cells break down prematurely, causing fatigue and other health issues.