PIGO
Chr 9ARphosphatidylinositol glycan anchor biosynthesis class O
Also known as: HPMRS2, hGPCR43
The protein transfers ethanolaminephosphate to the third mannose in glycosylphosphatidylinositol (GPI) anchor biosynthesis, which anchors proteins to cell surfaces including blood cells. Autosomal recessive mutations cause hyperphosphatasia with impaired intellectual development syndrome 2. The pathogenic mechanism involves loss of function leading to defective GPI anchor formation.
Definitive — sufficient evidence for diagnostic panels
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
PIGO · 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