Gene:
phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
Gene ID:
209362
Symbol:
PIGA
Species:
1000
Description:
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. Three mRNA species have been described that result from alternative splicing of exon 2.