The PIGP gene encodes an endoplasmic reticulum transmembrane protein that is part of the GPI-lipid-anchor transamidase complex involved in the attachment of the GPI anchor to the C- terminus of precursor proteins in the endoplasmic reticulum. Functional studies on individuals with PIGP mutations show a decrease in GPI-anchored proteins (GPI-Aps) at the cell surface demonstrating a defect in the biosynthesis of GPI-Aps. Approximately one in every 200 mammalian proteins is a GPI-Aps. These proteins are important for neurological development and function, embryogenesis, immune response, and signal transduction. CD16 is a valuable marker to support a genetic diagnosis of inherited GPI deficiencies.
PIGP