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GPI anchor deficiencies


In all eukaryotes there is a complex in the plasma membrane with the key task of anchoring glycoproteins on the cell surface, called the glycosylphosphatidylinositol anchor (GPI anchor). GPI-anchored proteins (GPI-APs) play a central  role in signal transduction, cell adhesion, and antigen presentation.

Defects in the synthesis and maturation of the GPI anchor and their consequences for GPI-APs represent a class of congenital disorders of glycosylation (CDG) that can cause congenital as well as acquired disorders.

Currently about 30 genes are known to play a role in the GPI anchor synthesis and maturation. In several of these genes pathogenic mutations could be identified over the recent years. The figure below shows all known genes involved in the anchor synthesis. In bold are genes for which pathogenic mutations have been described.


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