PIGT : phosphatidylinositol glycan anchor biosynthesis class T
Description
The PIGT gene encodes a protein essential for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. GPI anchors are complex glycolipids that attach proteins to the outer leaflet of cell membranes. These proteins play crucial roles in various cellular processes, including signal transduction, cell adhesion, and immune responses. PIGT is involved in the initial steps of GPI anchor synthesis, specifically the transfer of glucosamine-phosphate to phosphatidylinositol. Mutations in the PIGT gene can disrupt GPI anchor biosynthesis, leading to a range of inherited disorders characterized by defective GPI-anchored proteins.
Associated Diseases
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Congenital muscular dystrophy type 1D (CMD1D)
- Hyperphosphatasia with mental retardation syndrome (HPMRS)
- Severe combined immunodeficiency (SCID)
- Other rare genetic disorders
Did you know?
Mutations in the PIGT gene can cause a wide spectrum of clinical presentations, ranging from mild to severe, highlighting the importance of GPI anchors in cellular function.
