Molecular characteristics

Molecular characteristics
Biogenesis of GPI-APs is a conserved post-translational mechanism in eukaryotes and is important for attaching these proteins to the cell membrane, for protein sorting, trafficking, and dynamics. There are at least 30 genes involved in biosynthesis and remodelling of GPI anchors. PIGU is a component of GPI transamidase enzyme complex (GPIT) which attaches GPI anchor to the precursor protein, so PIGU deficient cells express decreased levels of GPI-APs.

Suspected pathogenicity
PIGU deficient cells express decreased levels of GPI-APs. GPI-APs play vital roles in numerous biological processes, such as neuronal development. The decreased levels of GPI-APs cause abnormal neuronal development which can lead to intellectual disability, developmental delay, and epilepsy.