PIGV
Chr 1ARphosphatidylinositol glycan anchor biosynthesis class V
Also known as: GPI-MT-II, HPMRS1, PIG-V
The protein is a mannosyltransferase enzyme localized to the endoplasmic reticulum that transfers the second mannose to the glycosylphosphatidylinositol (GPI) backbone during GPI biosynthesis, where GPI serves as a membrane anchor for many proteins. Autosomal recessive mutations cause hyperphosphatasia with impaired intellectual development syndrome 1 through loss of function. The pathogenic mechanism involves disrupted GPI anchor biosynthesis leading to defective protein anchoring to cell membranes.
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
PIGV · 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
External Resources
Links to major genomics databases and tools