Aliases for PIGW Gene
External Ids for PIGW Gene
Previous GeneCards Identifiers for PIGW Gene
The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
GeneCards Summary for PIGW Gene
PIGW (Phosphatidylinositol Glycan Anchor Biosynthesis Class W) is a Protein Coding gene. Diseases associated with PIGW include Hyperphosphatasia With Mental Retardation Syndrome 5 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups.
UniProtKB/Swiss-Prot for PIGW Gene
Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity).