Human phosphatidylinositol glycan anchor biosynthesis, class A ELISA Kit | PIGA elisa kit

Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit A, PIGA ELISA Kit

Cat. Num. AAA9325859

• Gene Names: PIGA; GPI3; PNH1; PIG-A; MCAHS2
• Reactivity: Human
• Synonyms: phosphatidylinositol glycan anchor biosynthesis; class A; Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; PIGA ELISA Kit; Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA) ELISA kit; GPI3; PIG-A; GLCNAC-PI synthesis protein; GPI anchor biosynthesis; phosphatidylinositol N-acetylglucosaminyltransferase subunit A; phosphatidylinositol-glycan biosynthesis; class A protein; PIGA elisa kit

• Reactivity: Human
• Specificity: No significant cross-reactivity or interference between this analyte and analogues is observed.

• Samples: Serum, Plasma and Tissue Homogenate
• Assay Type: Sandwich
• Detection Range: 3.12ng/ml-100ng/ml.
• Sensitivity: 1.0ng/ml.
• Intra-assay Precision: Intra-assay CV (%) is less than 15%.
• Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].
• Preparation and Storage: Store all reagents at 2-8 degree C

Related Product Information for PIGA elisa kit

Background: This Quantitative Sandwich ELISA kit is only for in vitro research use only! This kit is intended to be used for determination the level of PIGA (hereafter termed this analyte) in undiluted original Human serum, plasma and tissue homogenate samples.

NCBI and Uniprot Product Information

• NCBI GI #: 11863130
• NCBI GeneID: 5277
• NCBI Accession #: NP_002632.1
• NCBI GenBank Nucleotide #: NM_002641.3
• UniProt Accession #: P37287; Q16025; Q16250; B4E0V2
• Molecular Weight: 54,127 Da
• NCBI Official Full Name: phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1
• NCBI Official Synonym Full Names: phosphatidylinositol glycan anchor biosynthesis, class A
• NCBI Official Symbol: PIGA
• NCBI Official Synonym Symbols: GPI3; PNH1; PIG-A; MCAHS2
• NCBI Protein Information: 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
• UniProt Protein Name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
• Protein Family: Phosphatidylinositol N-acetylglucosaminyltransferase
• UniProt Gene Name: PIGA
• UniProt Synonym Gene Names: PIG-A
• UniProt Entry Name: PIGA_HUMAN

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

Chromosomal Location of Human Ortholog: Xp22.1

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