Molecular characteristics

Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. The biosynthetic pathway of GPI is mediated by sequential addition of sugars and other components to phosphatidylinositol. PIGV adds the second mannose to the GPI core. PIGV-CDG is transmitted in an autosomal recessive manner which means that both copies of the gene must carry the mutations for the disease to occur. These alter the function of PIGV protein. When it is mutated, it can no longer help in the formation of GPI-anchored proteins.