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. PIGY is involved in the first step of GPI biosynthesis, so mutations in PIGY cause decreased expression levels of GPI-anchored proteins.
Suspected pathogenicity
The PIGY gene is involved in the first step of GPI biosynthesis, so PIGY deficient cells express decreased levels of GPI-anchored proteins. GPI-anchored proteins play vital roles in numerous biological processes, such as neuronal development. The decreased levels of GPI- anchored proteins cause abnormal neuronal development, which can lead to intellectual disability, developmental delay, and epilepsy.
PIGY