PIGO : phosphatidylinositol glycan anchor biosynthesis class O
Description
The PIGO (phosphatidylinositol glycan anchor biosynthesis class O) is a protein-coding gene located on chromosome 9.
The PIGO gene provides instructions for producing a part of the GPI ethanolamine phosphate transfer 3 (GPI-ET3) enzyme. The other part of GPI-ET3 is encoded by the PIGF gene. GPI-ET3 is involved in a series of steps that create a glycosylphosphosphatidylinositol (GPI) anchor, specifically adding ethanolamine phosphate to the end of the forming anchor. This process occurs in the endoplasmic reticulum, a structure involved in protein processing and transport within cells. The completed GPI anchor attaches to various proteins in the endoplasmic reticulum, requiring the ethanolamine phosphate at its end. Once attached, the anchor binds to the outer surface of the cell membrane, ensuring the protein's availability when needed.
PIGO encodes a protein that functions as an ethanolamine phosphate transferase involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. It catalyzes the transfer of ethanolamine phosphate to the third mannose residue within the GPI anchor, linking the anchor to the C-terminus of proteins via an amide bond.
PIGO is also known as HPMRS2.
Associated Diseases
- Hyperphosphatasia-intellectual disability syndrome
- Hyperphosphatasia with mental retardation syndrome 2
- Mabry syndrome
