PIGS
Chr 17ARphosphatidylinositol glycan anchor biosynthesis class S
Also known as: DEE95, GPIBD18, PIG-S
This gene encodes a component of the GPI-anchor transamidase complex that catalyzes the attachment of GPI anchors to proteins in the endoplasmic reticulum, enabling these proteins to be anchored to cell surfaces. Biallelic mutations cause developmental and epileptic encephalopathy 95, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.769), reflecting its essential role in cellular function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PIGS · 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
Ex Vivo Perfusion of Gene-Edited Porcine Livers in Patients With Severe Hepatic Failure
ACTIVE NOT RECRUITINGTwo Studies for Patients With Unfavorable Intermediate Risk Prostate Cancer Testing Less Intense Treatment for Patients With a Low Gene Risk Score and Testing a More Intense Treatment for Patients With a Higher Gene Risk Score, The Guidance Trial
ACTIVE NOT RECRUITINGTwo Studies for Patients With High Risk Prostate Cancer Testing Less Intense Treatment for Patients With a Low Gene Risk Score and Testing a More Intense Treatment for Patients With a High Gene Risk Score, The PREDICT-RT Trial
ACTIVE NOT RECRUITINGA Vaccine (VSV-hIFNβ-NIS) With or Without Cyclophosphamide and Combinations of Ipilimumab, Nivolumab, and Cemiplimab in Treating Relapsed or Refractory Multiple Myeloma, Acute Myeloid Leukemia or Lymphoma
RECRUITINGPIPAC in Gastric Peritoneal Metastasis
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools