PIGH Chromosome 14
Phosphatidylinositol glycan anchor biosynthesis class H
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What This Gene Does
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex"
Locus Type
gene with protein product
Location
14q24.1
Ensembl
ENSG00000100564
Associated Conditions (3)
Glycosylphosphatidylinositol biosynthesis defect 17
Inborn genetic diseases
PIGH-related disorder
Key Variants
RS370763975
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 17, Inborn genetic diseases, PIGH-related disorder
Health Risk
RS761543313
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 17, Glycosylphosphatidylinositol biosynthesis defect 17
Health Risk
RS776038451
Pathogenic
Glycosylphosphatidylinositol biosynthesis defect 17, Glycosylphosphatidylinositol biosynthesis defect 17
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370763975 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 17, Inborn genetic diseases, PIGH-related disorder |
| RS761543313 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 17, Glycosylphosphatidylinositol biosynthesis defect 17 |
| RS776038451 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 17, Glycosylphosphatidylinositol biosynthesis defect 17 |