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PIGA

Official Full Name
phosphatidylinositol glycan anchor biosynthesis class A
Organism
Homo sapiens
GeneID
5277
Background
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]
Synonyms
GPI3; PNH1; PIG-A; MCAHS2; NEDEPH;

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