PIGW

Description

The PIGW gene encodes a protein crucial for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, complex glycolipids that attach proteins to the cell membrane. GPI anchors play vital roles in various cellular processes, including cell adhesion, signaling, and immune responses. PIGW acts as a glycosyltransferase, catalyzing the transfer of a mannose residue from a dolichol-linked precursor to a GPI intermediate. This transfer is essential for the proper assembly and function of GPI anchors. Mutations in the PIGW gene can lead to defects in GPI anchor biosynthesis, resulting in a range of human diseases.

Associated Diseases

• Paroxysmal nocturnal hemoglobinuria (PNH)
• Congenital muscular dystrophy type 1D (CMD1D)
• GPI deficiency disorders

Did you know?

PIGW gene mutations can cause a rare blood disorder called paroxysmal nocturnal hemoglobinuria (PNH), characterized by episodes of red blood cell destruction.