Cat Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A (PIGA) ELISA Kit | PIGA elisa kit
Cat Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A (PIGA) ELISA Kit
NCBI and Uniprot Product Information
NCBI 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. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
Uniprot Description
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
Research Articles on PIGA
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Product Notes
The Cat PIGA piga (Catalog #AAA9361291) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9361291 ELISA Kit recognizes Cat PIGA. It is sometimes possible for the material contained within the vial of "Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A (PIGA), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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