PIGA : phosphatidylinositol glycan anchor biosynthesis class A
Description
The PIGA (phosphatidylinositol glycan anchor biosynthesis class A) is a protein-coding gene located on chromosome X.
The PIGA gene provides instructions for making the PIG-A protein, a key player in the production of the glycophosphatidylinositol (GPI) anchor. This anchor attaches various proteins to the cell membrane, enabling them to perform functions like cell adhesion, signal relaying, and protection against damage. The PIG-A protein, as part of a complex, initiates the GPI anchor production by creating an intermediate molecule called GlcNAc-PI.
The PIGA protein is a catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. It facilitates the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, initiating the GPI biosynthesis process.
PIGA is also known as GPI3, MCAHS2, NEDEPH, PIG-A, PNH1.
Associated Diseases
- Malignant migrating focal seizures of infancy
- Paroxysmal nocturnal hemoglobinuria
- Infantile spasms syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Neurodevelopmental disorder with epilepsy and hemochromatosis
- Simpson-Golabi-Behmel syndrome
