Aliases for PIGN Gene
External Ids for PIGN Gene
Previous GeneCards Identifiers for PIGN Gene
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
GeneCards Summary for PIGN Gene
PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a Protein Coding gene. Diseases associated with PIGN include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 and Fryns Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Post-translational modification- synthesis of GPI-anchored proteins. GO annotations related to this gene include transferase activity and sulfuric ester hydrolase activity.
UniProtKB/Swiss-Prot for PIGN Gene
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.