PIGS

Description

PIGs genes, short for Phosphatidylinositol Glycan Class A, encode a family of proteins crucial for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. These anchors are essential for attaching proteins to the outer leaflet of cell membranes, enabling a wide range of cellular functions, including cell signaling, adhesion, and immune responses. The biosynthesis of GPI anchors is a complex multi-step process involving a series of enzymatic reactions catalyzed by PIGs proteins. Defects in these genes can disrupt GPI anchor biosynthesis leading to various diseases.

Associated Diseases

• Paroxysmal nocturnal hemoglobinuria (PNH)
• Hyperphosphatasia with mental retardation syndrome (HPMRS)
• Congenital muscular dystrophy type 1D (CMD1D)
• Other rare genetic disorders

Did you know?

GPI anchors are found in a wide variety of organisms, from bacteria to humans, highlighting their fundamental importance in cellular processes.