Phosphatidylinositol N-acetylglucosaminyltransferase subunit A, GlcNAc-PI synthesis protein, Phosphatidylinositol-glycan biosynthesis class A protein, PIG-A, PIGA
This gene encodes a protein required for synthesis ofN-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the firstintermediate in the biosynthetic pathway of GPI anchor. The GPIanchor is a glycolipid found on many blood cells and which servesto anchor proteins to the cell surface. Paroxysmal nocturnalhemoglobinuria, an acquired hematologic disorder, has been shown toresult from mutations in this gene. Alternate splice variants havebeen characterized. A related pseudogene is located on chromosome12.