PIGM Chromosome 1
Phosphatidylinositol glycan anchor biosynthesis class M
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What This Gene Does
This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis"
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000143315
Associated Conditions (2)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Inborn genetic diseases
Key Variants
RS763115687
Conflicting classifications of pathogenicity
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Health Risk
RS779628172
Conflicting classifications of pathogenicity
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Health Risk
RS776715594
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763115687 | Health Risk | Conflicting classifications of pathogenicity | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
| RS779628172 | Health Risk | Conflicting classifications of pathogenicity | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
| RS776715594 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |