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GPI3 / PIGA is 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.
Gene Name: | phosphatidylinositol glycan anchor biosynthesis, class A |
Synonyms: | PIGA, GPI anchor biosynthesis, GPI3, PIG-A, GlcNAc-PI synthesis protein, MCAHS2 |
Target Sequences: | NM_002641 NP_002632.1 P37287 |
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