PIGS Chromosome 17
Phosphatidylinositol glycan anchor biosynthesis class S
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What This Gene Does
This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex"
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000087111
Associated Conditions (1)
Glycosylphosphatidylinositol biosynthesis defect 18
Key Variants
RS1156344551
Likely pathogenic
Health Risk
RS1263517814
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS1426262136
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS1567618413
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS1243182982
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS1249675321
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS1567614073
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS1567616570
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS2070332383
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS2151511848
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
RS769890071
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1156344551 | Health Risk | Likely pathogenic | — |
| RS1263517814 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS1426262136 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS1567618413 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS1243182982 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS1249675321 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS1567614073 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS1567616570 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS2070332383 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS2151511848 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |
| RS769890071 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18 |