PIGX
Chr 3phosphatidylinositol glycan anchor biosynthesis class X
Also known as: PIG-X
This gene encodes a stabilizing subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex, which catalyzes the transfer of the first mannose during GPI-anchor biosynthesis in the endoplasmic reticulum. Mutations cause congenital disorders of glycosylation with early infantile epileptic encephalopathy, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.162), suggesting that complete loss of function may be compatible with survival but still pathogenic when present in homozygous or compound heterozygous states.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
122 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 84 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 20 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 1 |
Conflicting | — | 1 | |||
| Total | — | 111 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PIGX · 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