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Disease associated PIGO missense mutations resulted in decreased activity in vitro.
Novel PIGO mutations expand the clinical spectrum of PIGO abnormalities to include epileptic encephalopathy with mild elevation of alkaline phosphatase (ALP).
Our data identify PIGO as the second gene associated with HPMRS and suggest that a deficiency in GPI (show GNPDA1 Proteins)-anchor synthesis is the underlying molecular pathomechanism of HPMRS.
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene.
GPI ethanolamine phosphate transferase 3
, phosphatidylinositol-glycan biosynthesis class O protein
, phosphatidylinositol glycan class O
, phosphatidylinositol glycan, class O