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. Note: This description may include information from UniProtKB.
Protein type: EC; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: Xp22.2
Cellular Component:  endoplasmic reticulum membrane; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; integral component of membrane
Molecular Function:  phosphatidylinositol N-acetylglucosaminyltransferase activity; protein binding; UDP-glycosyltransferase activity
Biological Process:  cellular response to leukemia inhibitory factor; GPI anchor biosynthetic process; positive regulation of metabolic process; preassembly of GPI anchor in ER membrane
Disease: Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2; Paroxysmal Nocturnal Hemoglobinuria 1
Reference #:  P37287 (UniProtKB)
Alt. Names/Synonyms: GlcNAc-PI synthesis protein; GPI anchor biosynthesis; GPI3; phosphatidylinositol glycan anchor biosynthesis, class A; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; Phosphatidylinositol-glycan biosynthesis class A protein; phosphatidylinositol-glycan biosynthesis, class A protein; PIG-A; PIGA
Gene Symbols: PIGA
Molecular weight: 54,127 Da
Basal Isoelectric point: 8.63  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein