Entity Details
Details
| PrimaryID | 5283 |
| RefseqGene | NG_050632 |
| Symbol | PIGH |
| Name | phosphatidylinositol glycan anchor biosynthesis class H |
| Chromosome | 14 |
| Location | 14q24.1 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 1998-08-19 |
| 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:0005783 | endoplasmic reticulum |
| GO:0005789 | endoplasmic reticulum membrane |
| GO:0006464 | cellular protein modification process |
| GO:0006506 | GPI anchor biosynthetic process |
| 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 |
| 618010 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) | An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
7 interactions