PIGU
Description
The PIGU gene encodes a protein called PIGU, a key player in lipid metabolism and cell signaling. PIGU‘s role lies in the synthesis of glycosylphosphatidylinositol (GPI) anchors, complex molecules that attach proteins to cell membranes. These anchors are vital for various cellular processes, including signal transduction, cell adhesion, and immune response. PIGU‘s involvement extends beyond lipid metabolism, influencing other cellular functions through its interaction with various proteins and its impact on GPI anchor biosynthesis.
Associated Diseases
- Congenital Disorder of Glycosylation Type Im (CDG-Im): Mutations in PIGU lead to a deficiency in GPI anchor biosynthesis, resulting in a wide range of developmental and neurological abnormalities.
- Leukocyte Adhesion Deficiency (LAD): PIGU defects can contribute to deficiencies in leukocyte adhesion, impairing the immune system‘s ability to fight infections.
- Neurodevelopmental Disorders: Due to its influence on cell signaling and GPI anchor synthesis, PIGU mutations may be linked to certain neurodevelopmental disorders.
Did you know?
PIGU‘s role in GPI anchor biosynthesis is essential for the proper function of many proteins, including those involved in the immune system, nervous system, and blood clotting.
