PIGU
Chr 20ARphosphatidylinositol glycan anchor biosynthesis class U
Also known as: CDC91L1, GAB1, GPIBD21, NEDBSS, PIG-U
The protein functions as the fifth subunit of GPI transamidase complex, which catalyzes the attachment of GPI-anchors to proteins and is essential for GPI-anchored protein biosynthesis. Mutations cause autosomal recessive neurodevelopmental disorder with brain anomalies, seizures, and scoliosis. This disorder involves the central nervous system and musculoskeletal system, with neurodevelopmental impairment as a key feature.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
PIGU · 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