Molecular characteristics
GPI anchor is a glycolipid which is important for attaching over 150 kinds of proteins to the cell membrane, which serve critical biological functions. There are at least 27 genes involved in biosynthesis and remodelling of GPI anchors. PIGG encodes the enzyme involved in the tenth step of GPI biosynthesis. This step is important for neurological development.
Suspected pthogenecity
Different from other IGDs, the PIGG deficient cells express the GPI-anchored proteins at normal level with the normal structure on the cell surface. However, according to our recent analysis, we speculate that some GPI-anchored proteins in the neuronal cells may be decreased in PIGG deficient individuals. GPI-anchored proteins play vital roles in numerous biological processes, such as neuronal development. The decreased levels of some GPI-anchored proteins cause abnormal neuronal development which can lead to intellectual disability, developmental delay, and epilepsy.
PIGG