부산대학교 도서관

Glycosylphosphatidylinositol (GPI) is a glycolipid that binds to the C-terminus of >150 proteins and anchors them to the cell surface. Thirty gene products are involved in its biosynthesis, and genetic mutations in these genes cause inherited GPI deficiency with neurological symptoms such as intellectual disability, delayed motor development, and epilepsy. Furthermore, paroxysmal nocturnal hemoglobinuria is an acquired GPI deficiency caused by mutations in the PIGA gene of hematopoietic stem cells. Its main symptom is hemolytic attacks due to complement activation. Although rare, paroxysmal nocturnal hemoglobinuria caused by mutations in PIGT, PIGB, and PIGV has recently been discovered and exhibits characteristic symptoms. Here, we describe recent findings on the biosynthesis of GPI anchors and their deficiency.