靶标:
PIGA
产品别名:
GPI3; MCAHS2; NEDEPH; PIG-A; PNH1; PIGA; phosphatidylinositol glycan anchor biosynthesis class A; phosphatidylinositol glycan anchor biosynthesis class A; phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GLCNAC-PI synthesis protein; GPI anchor biosynthesis; class A GlcNAc-inositol phospholipid assembly protein; phosphatidylinositol-glycan biosynthesis, class A protein; 红细胞磷脂酰肌醇聚糖A;
背景信息:
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. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010],