Role of and in glycosylphosphatidylinositol biosynthesis and human health (Review).

Glycosylphosphatidylinositol-glycan (GPI) is an anchor to specific cell surface proteins known as GPI-anchored proteins (APs) that are localized in lipid rafts and may act as cell co-receptors, enzymes and adhesion molecules. The present review investigated the significance of GPI biosynthesis class phosphatidylinositol-glycan and in GPI synthesis and their implications in human health conditions. encodes GPI-mannosyltransferase I (MT-I) enzyme that adds the first mannose to the GPI core structure. encodes the regulatory subunit of GPI-MT-I. The present review summarizes characteristics of the coding sequences of and , and their expression in humans, as well as the relevance of GPI-MT-I and the regulatory subunit in maintaining the presence of GPI-APs on the cell surface and their secretion. In addition, the association of mutations with paroxysmal nocturnal hemoglobinuria and certain types of GPI-deficiency disease and the altered expression of and in cancer were also reviewed. In addition, their interaction with other proteins was described, suggesting a complex role in cell biology. and are critical genes for GPI synthesis. Understanding gene and protein regulation may provide valuable insights into the role of GPI-APs in cellular processes.