phosphatidylinositol glycan anchor biosynthesis class C
| UniProt | Protein Name |
|---|---|
| Q92535 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| catalytic activity | ||
| protein binding |
| InterPro |
|---|
| Phosphatidylinositol N-acetylglucosaminyltransferase subunit C |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081223 | glycosylphosphatidylinositol biosynthesis defect 16 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0002465 | Poor speech |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003593 | Infantile onset |
| Disease ID | Disease Name |
|---|---|
| OMIM:617816 |
|
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026