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Target intelligence / Profile preview
Phosphatidylinositol glycan anchor biosynthesis class B protein (PIGB)
- Target
- PIGB
- Molecular classification
- Enzyme, Glycosyltransferase, Transmembrane protein
01
Overview
Phosphatidylinositol glycan anchor biosynthesis class B protein (PIGB) is a transmembrane enzyme localized in the endoplasmic reticulum that catalyzes the transfer of the third mannose to the glycosylphosphatidylinositol (GPI) anchor during its biosynthetic pathway. This Dol-P-Man dependent alpha-1,2-mannosyltransferase is critical for the maturation of GPI anchors, which tether numerous proteins to the cell membrane, regulating their localization and cellular functions. PIGB belongs to a conserved family of membrane-embedded mannosyltransferases essential for proper GPI anchoring. Genetic defects in PIGB cause inherited GPI deficiency syndromes, leading to profound neurodevelopmental disease, epilepsy, skeletal dysplasia, and peripheral neuropathy. No approved drugs are known to target PIGB directly.
- Other names
- GPI alpha-1,2-mannosyltransferase 3GPI-MT-IIIPIG-BGPI mannosyltransferase IIIGPI mannosyltransferase 3dol-P-Man dependent GPI mannosyltransferase IIIDEE80EIEE80phosphatidylinositol-glycan biosynthesis class B protein
02
Biological functions
Glycosylphosphatidylinositol (GPI) anchor biosynthesisPost-translational protein modificationProtein localization to the cell surface
03
Disease associations
Neurodevelopmental disorder (Developmental and epileptic encephalopathy 80)Skeletal dysplasia (Acrofrontofacionasal dysostosis type 1)Peripheral neuropathy
04
Safety considerations
Deficiency or mutation can lead to severe neurodevelopmental defects, epileptic encephalopathy, skeletal malformations, and peripheral neuropathy
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