PIGC
Description
The PIGC gene, encodes the enzyme phosphatidylinositol glycan class C (PIG-C). PIG-C plays a crucial role in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which are essential for the attachment of proteins to the outer leaflet of the cell membrane. GPI anchors are involved in various cellular processes, including cell signaling, adhesion, and immune responses. PIGC mutations can disrupt GPI anchor biosynthesis, leading to a range of genetic disorders.
Associated Diseases
- Paroxysmal nocturnal hemoglobinuria (PNH)
- GPI deficiency (CDG-type 1)
- Severe combined immunodeficiency (SCID)
- Cerebrotendinous xanthomatosis (CTX)
Did you know?
PIGC mutations are associated with a rare but serious blood disorder called paroxysmal nocturnal hemoglobinuria (PNH), which causes red blood cells to break down prematurely.
