This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized.
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Protein Aliases: class A GlcNAc-inositol phospholipid assembly protein; GLCNAC-PI synthesis protein; GPI anchor biosynthesis; N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein; phosphatidylinositol glycan anchor biosynthesis, class A; phosphatidylinositol glycan, class A; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; Phosphatidylinositol-glycan biosynthesis class A protein; phosphatidylinositol-glycan biosynthesis, class A protein; phosphatidylinositolglycan class A; PIG-A
Gene Aliases: AI194334; GPI3; MCAHS2; PIG-A; PIGA; PNH1