PIGN
Chr 18ARphosphatidylinositol glycan anchor biosynthesis class N
The protein transfers phosphoethanolamine to the first mannose of the GPI anchor during GPI-anchor biosynthesis in the endoplasmic reticulum, which is essential for anchoring proteins to cell surfaces. Autosomal recessive mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 1. The pathogenic mechanism involves defective GPI anchor synthesis, which disrupts normal protein anchoring to cell membranes.
Definitive — sufficient evidence for diagnostic panels
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
PIGN · 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