Target：PIGA

Fields：Glycosylphosphatidylinositol (GPI)-anchor biosynthesis;Metabolic pathways

Gene Name：PIGA

Protein Name：Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc-PI synthesis protein) (Phosphatidylinositol-glycan biosynthesis class A protein) (PIG-A)

Human Gene Id：5277

Human Swiss Prot No：P37287

Mouse Swiss Prot No：Q64323

Immunogen：Synthesized peptide derived from human protein . at AA range: 410-490

Specificity：PIGA Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：53kD

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],

Function：catalytic activity:UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.,disease:Defects in PIGA are the cause of paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]. PNH is an acquired hemolytic blood disorder characterized by chronic hemolysis with hemoglobinuria, increased tendency to venous thrombosis, and variable degrees of bone marrow failure Biosynthesis of the GPI anchor is deficient in patients with PNH leading to deficient surface expression of GPI-anchored proteins such as DAF or CD59 which play roles in the protection of red cells from the action of complement.,function:Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.,online information:Phosphatidylinositol N-acetylglucosaminyltransferase subunit A,pathway:Glycoli

Subcellular Location：Endoplasmic reticulum membrane; Single-pass membrane protein.

Expression： Brain,Kidney,