PGAP1
Chr 2ARpost-GPI attachment to proteins inositol deacylase 1
Also known as: Bst1, ISPD3024, MRT42, NEDDSBA, SPG67
The protein catalyzes inositol deacylation in the glycosylphosphatidylinositol (GPI) biosynthetic pathway and is required for endoplasmic reticulum-to-Golgi transport of GPI-anchored proteins. Mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities. The gene is highly intolerant to loss-of-function variation (LOEUF 0.6), reflecting its essential role in cellular protein trafficking.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
PGAP1 · 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