PIGY Chromosome 4
Phosphatidylinositol glycan anchor biosynthesis class Y
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What This Gene Does
The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex"
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000255072
Associated Conditions (1)
Hyperphosphatasia with intellectual disability syndrome 6
Key Variants
RS869025322
Pathogenic
Hyperphosphatasia with intellectual disability syndrome 6, Hyperphosphatasia with intellectual disability syndrome 6
Health Risk
RS869025323
Pathogenic
Hyperphosphatasia with intellectual disability syndrome 6, Hyperphosphatasia with intellectual disability syndrome 6
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869025322 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 6, Hyperphosphatasia with intellectual disability syndrome 6 |
| RS869025323 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 6, Hyperphosphatasia with intellectual disability syndrome 6 |