Entrez gene ID | | 5277 |
Official gene symbol | | PIGA |
Full name | | phosphatidylinositol glycan anchor biosynthesis, class A |
Aliases | | ,GPI3,PIG-A, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xp22.1 |
Gene position | | 15353676 - 15337573 Map Viewer |
Gene orientation | | minus |
Gene size | | 16104 bp |
Gene sequence |
| |
OMIM ID | | 311770 |
|