Gene Symbol | PIGA |
Entrez Gene ID | 5277 |
Full Name | phosphatidylinositol glycan anchor biosynthesis class A |
Synonyms | GPI3,MCAHS2,PIG-A,PNH1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) |