PIGN

Description

The PIGN gene encodes a protein that plays a vital role in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. These anchors are essential for attaching proteins to the cell membrane, influencing diverse cellular functions. PIGN is involved in the initial steps of GPI anchor synthesis, catalyzing the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI), forming GlcNAc-PI. This reaction is crucial for the subsequent steps of GPI anchor assembly, leading to the proper anchoring of proteins to the cell membrane.

Associated Diseases

• Congenital disorder of glycosylation type Ia (CDG-Ia)
• Paroxysmal nocturnal hemoglobinuria (PNH)
• Multiple epiphyseal dysplasia (MED)
• Neuropathies
• Inflammatory bowel disease (IBD)

Did you know?

Mutations in the PIGN gene can lead to a variety of diseases, including rare genetic disorders and more common conditions like inflammatory bowel disease.