Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A (PIGA), ELISA Ki

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of PIGA elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9349014 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A (PIGA) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing PIGA. The ELISA analytical biochemical technique of the MBS9349014 kit is based on PIGA antibody-PIGA antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect PIGA antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, PIGA. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

28,034 Da

phosphatidylinositol glycan anchor biosynthesis class A

phosphatidylinositol N-acetylglucosaminyltransferase subunit A

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A

PIG-A  [Similar Products]

PIGA_HUMAN

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]

PIGA: 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). PNH is a disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Clinical manifestation of red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. Defects in PIGA are the cause of multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2). An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.198; Transferase; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp22.1

Cellular Component: endoplasmic reticulum membrane; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; integral to membrane; membrane

Molecular Function: phosphatidylinositol N-acetylglucosaminyltransferase activity; protein binding; UDP-glycosyltransferase activity

Biological Process: C-terminal protein lipidation; cellular protein metabolic process; GPI anchor biosynthetic process; positive regulation of metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane

Disease: Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2; Paroxysmal Nocturnal Hemoglobinuria 1

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