PIGU Chromosome 20
Phosphatidylinositol glycan anchor biosynthesis class U
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What This Gene Does
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors 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
20q11.22
Ensembl
ENSG00000101464
Associated Conditions (1)
Glycosylphosphatidylinositol biosynthesis defect 21
Key Variants
RS2146684649
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21
Health Risk
RS1600656141
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21
Health Risk
RS756912205
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146684649 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21 |
| RS1600656141 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21 |
| RS756912205 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21 |