PIGZ Chromosome 3
Phosphatidylinositol glycan anchor biosynthesis class Z (Gwada blood group)
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What This Gene Does
The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Blood group antigens|Phosphatidylinositol glycan anchor biosynthesis"
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000119227
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150001262 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759251329 | Health Risk | Conflicting classifications of pathogenicity | — |