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Target intelligence / Profile preview
Phosphatidylinositol glycan anchor biosynthesis class C protein (PIGC)
- Target
- PIGC
- Molecular classification
- Enzyme
01
Overview
Phosphatidylinositol glycan anchor biosynthesis class C protein (PIGC) is an endoplasmic reticulum-associated enzyme that is a subunit of the GPI N-acetylglucosaminyltransferase complex. It catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, which is the first step in GPI anchor biosynthesis. GPI anchors are glycolipids that tether many proteins to the cell surface, essential for their localization and function. Mutations in PIGC disrupt GPI anchor biosynthesis and are linked to several genetic disorders, primarily affecting the nervous system with developmental delays and intellectual disabilities.
- Other names
- Phosphatidylinositol N-acetylglucosaminyltransferase subunit CGPI2PIG-CGPIBD16MRT62phosphatidylinositol-glycan biosynthesis class C protein
02
Biological functions
Glycosylphosphatidylinositol (GPI) anchor biosynthesisPost-translational modificationAnchoring proteins to cell surface
03
Disease associations
Glycosylphosphatidylinositol biosynthesis defects (e.g., Glycosylphosphatidylinositol Biosynthesis Defect 16)Autosomal recessive non-syndromic intellectual disabilityGlobal developmental delay
04
Safety considerations
GPI biosynthesis defects can result in developmental delay and intellectual disability
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