PIGC Chromosome 1
Phosphatidylinositol glycan anchor biosynthesis class C
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What This Gene Does
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex"
Locus Type
gene with protein product
Location
1q24.3
Ensembl
ENSG00000135845
Associated Conditions (3)
Glycosylphosphatidylinositol biosynthesis defect 16
Non-immune hydrops fetalis
Global developmental delay
Key Variants
RS115209243
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
Health Risk
RS786205667
Conflicting classifications of pathogenicity
Non-immune hydrops fetalis, Glycosylphosphatidylinositol biosynthesis defect 16, Non-immune hydrops fetalis
Health Risk
RS1553259602
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
Health Risk
RS1553259614
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
Health Risk
RS770671752
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
Health Risk
RS2526991185
Pathogenic/Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 16, Global developmental delay, Glycosylphosphatidylinositol biosynthesis defect 16
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115209243 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16 |
| RS786205667 | Health Risk | Conflicting classifications of pathogenicity | Non-immune hydrops fetalis, Glycosylphosphatidylinositol biosynthesis defect 16, Non-immune hydrops fetalis |
| RS1553259602 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16 |
| RS1553259614 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16 |
| RS770671752 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16 |
| RS2526991185 | Health Risk | Pathogenic/Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 16, Global developmental delay, Glycosylphosphatidylinositol biosynthesis defect 16 |