PIGK
Description
The PIGK gene encodes for a key enzyme, phosphatidylinositol glycan class K (PIG-K), involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. These anchors are essential for attaching proteins to the outer leaflet of cell membranes, playing a vital role in numerous biological processes, including cell adhesion, signal transduction, and immune response. Mutations in PIGK can disrupt GPI anchor biosynthesis, leading to various inherited disorders characterized by impaired cell function.
Associated Diseases
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Congenital dyserythropoietic anemia type II (CDA II)
- Hyperphosphatasia with mental retardation syndrome (HPMRS)
- GPI deficiency diseases
Did you know?
PIGK mutations are responsible for the rare but serious condition Paroxysmal nocturnal hemoglobinuria (PNH), characterized by recurrent episodes of nighttime hemolysis and blood clots.
