Abstract
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by clonal blood cells that are defective in the surface expression of GPI-anchored proteins. Glycosylphosphatidylinositol (GPI) is synthesized in the endoplasmic reticulum and is transferred en bloc to the protein. Defective GPI-anchor biosynthesis results in a lack of the cell surface expression of GPI-anchored proteins. Affected cells from patients with PNH are defective in the first reaction of GPI biosynthesis. This defect is due to somatic mutation in PIG-A gene that encodes a subunit of the N-acetylglucosamine transferase. PIG-A is localized on the X-chromosome. Therefore, one inactivating mutation causes the defective biosynthesis of GPI.
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