Defects in GPI anchor biosynthesis can lead to severe clinical conditions. Paroxysmal Nocturnal Hemoglobinuria (PNH) is a disorder resulting from mutations in the PIGA gene, which is crucial for GPI anchor synthesis. This leads to a deficiency in GPI-anchored proteins on blood cells, causing them to be more susceptible to immune attack. Additionally, GPI anchor deficiencies have been linked to intellectual disabilities and other developmental disorders.
