Aliases for PIGG Gene
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for PIGG Gene
PIGG (Phosphatidylinositol Glycan Anchor Biosynthesis Class G) is a Protein Coding gene. Diseases associated with PIGG include Mental Retardation, Autosomal Recessive 53 and Hypotonia. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and CP2 mannose-ethanolamine phosphotransferase activity. An important paralog of this gene is PIGO.
UniProtKB/Swiss-Prot for PIGG Gene
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose.