Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; EC=2.4.1.198; GlcNAc-PI synthesis protein; Phosphatidylinositol-glycan biosynthesis class A protein; PIG-A

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

E Coli or Yeast or Baculovirus or Mammalian Cell

>=90% (lot specific)

Liquid containing glycerol

This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.

Sterile filter available upon request.

Low endotoxin available upon request.

Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of PIGA recombinant protein 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.

28,034 Da

phosphatidylinositol glycan anchor biosynthesis, class A

phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GPI anchor biosynthesis; GLCNAC-PI synthesis protein; class A GlcNAc-inositol phospholipid assembly protein; phosphatidylinositol-glycan biosynthesis, class A protein

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; membrane; integral to membrane

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

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

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

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