Molecular weight (DA)
53kD
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.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
Protein name
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc-PI synthesis protein) (Phosphatidylinositol-glycan biosynthesis class A protein) (PIG-A)
Fields
>>Glycosylphosphatidylinositol (GPI)-anchor biosynthesis;>>Metabolic pathways
Human protein sequence Database
P37287
Mouse protein sequence database
Q64323
Rat protein sequence database
Cellular localization
Endoplasmic reticulum membrane; Single-pass membrane protein.
Tissue expression
Brain,Kidney,
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