PIGB
Chr 15ARphosphatidylinositol glycan anchor biosynthesis class B
Also known as: DEE80, EIEE80, GPI-MT-III, PIG-B
PIGB encodes an alpha-1,2-mannosyltransferase that catalyzes the addition of the third mannose residue during glycosylphosphatidylinositol (GPI) anchor biosynthesis, which is essential for anchoring proteins to cell surfaces. Mutations cause developmental and epileptic encephalopathy 80, inherited in an autosomal recessive pattern. The gene is highly intolerant to loss-of-function variants (pLI near 1), indicating that complete loss of function is likely incompatible with normal development.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PIGB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools