Entity Details
Details
| PrimaryID | 5279 |
| RefseqGene | NG_050631 |
| Symbol | PIGC |
| Name | phosphatidylinositol glycan anchor biosynthesis class C |
| Chromosome | 1 |
| Location | 1q24.3 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 1997-10-16 |
| ModificationDate | 2021-06-11 |
GO terms
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| GO | Name |
| GO:0000506 | glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
| GO:0003824 | catalytic activity |
| GO:0005789 | endoplasmic reticulum membrane |
| GO:0006506 | GPI anchor biosynthetic process |
| GO:0016021 | integral component of membrane |
| GO:0016254 | preassembly of GPI anchor in ER membrane |
| GO:0017176 | phosphatidylinositol N-acetylglucosaminyltransferase activity |
Diseases
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| Disease ID | Source | Name | Description |
| 617816 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) | An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
6 interactions