Aliases for PIGA Gene
- Phosphatidylinositol Glycan Anchor Biosynthesis Class A 2 3 5
- Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A 3 4
- EC 188.8.131.52 4 51
- PIG-A 3 4
- GPI3 2 3
- Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria) 2
- Phosphatidylinositol-Glycan Biosynthesis, Class A Protein 3
- Phosphatidylinositol-Glycan Biosynthesis Class A Protein 4
External Ids for PIGA Gene
Previous GeneCards Identifiers for PIGA Gene
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]
GeneCards Summary for PIGA Gene
PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) is a Protein Coding gene. Diseases associated with PIGA include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 and Paroxysmal Nocturnal Hemoglobinuria 1. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity and UDP-glycosyltransferase activity. An important paralog of this gene is ALG11.
UniProtKB/Swiss-Prot Summary for PIGA Gene
Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.