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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Fig. 1

GPI biosynthesis pathway. Illustrated is the biosynthetic pathway of GPI-AP. In the Synthesis-stage, twenty genes are responsible for synthesizing the GPI anchor (Synthesis Group, genes highlighted in red). The Transamidase+Remodelinglate-stage couples the protein to the GPI anchor and mediates trafficking through the Golgi apparatus to the cell surface (Tranasmidase+Remodeling Group, genes highlighted in blue) [3,4,5,6]. Abbreviations: PI: phosphatidylinositol; EtNP: ethanolamine phosphate; GlcN: D-Glucosamine; GlcNAc: N-Acetyl-D-glucosamine; E.R.:endoplasmic reticulum. Gene symbols: See Tables 1 and 2

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172