Description
Product Characteristics:
PIGA belongs to the glycosyltransferase 1 family and is necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis. Defects in PIGA are the cause of paroxysmal nocturnal hemoglobinuria (PNH) which is an acquired hemolytic blood disorder characterized by chronic hemolysis with hemoglobinuria, increased tendency to venous thrombosis, and variable degrees of bone marrow failure.
Synonyms: GlcNAc PI synthesis protein, GlcNAc-PI synthesis protein, GPI3, Phosphatidylinositol glycan anchor biosynthesis class A, phosphatidylinositol glycan anchor biosynthesis, class A paroxysmal nocturnal hemoglobinuria, Phosphatidylinositol N-acetylglucosaminyltransferase subunit A, PIG A, PIG-A, PIGA_HUMAN, Phosphatidylinositol-glycan biosynthesis class A protein, PIG-A.
Target Information: 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]