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Target intelligence / Profile preview
Phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS)
- Target
- PIGS
- Molecular classification
- Enzyme, Transamidase complex subunit, Other (subunit of multisubunit enzyme)
01
Overview
Phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) is an essential component of the glycosylphosphatidylinositol (GPI)-anchor transamidase (GPI-T) complex. This multi-subunit enzyme complex catalyzes a post-translational modification that attaches a GPI anchor to proteins in the endoplasmic reticulum, facilitating their anchoring to the cell membrane. The GPI anchor is a glycolipid found on many blood and other cell types and is critical for the proper localization and function of a wide variety of membrane proteins. Mutations in the PIGS gene are implicated in rare congenital disorders such as developmental and epileptic encephalopathy, due to disruption of GPI anchor biosynthesis and defective cell-surface protein localization[1].
- Other names
- GPI-anchor transamidase component PIGSPIGSUNQ1873/PRO4316PIG-SPhosphatidylinositol-glycan biosynthesis class S proteinGPI transamidase subunitGPI transamidase component PIG-SDEE95GPIBD18phosphatidylinositol glycan, class Sphosphatidylinositol-glycan biosynthesis class S protein
02
Biological functions
GPI anchor biosynthesisPost-translational modificationProtein anchoring to the cell membraneMetabolism of proteins
03
Disease associations
Epileptic encephalopathy (specifically "Developmental and Epileptic Encephalopathy 95")EpilepsyOther disorders stemming from errors in GPI anchor biosynthesis
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