phosphatidylinositol glycan anchor biosynthesis class O
| UniProt | Protein Name |
|---|---|
| Q8TEQ8 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| mannose-ethanolamine phosphotransferase activity | ||
| mannose-ethanolamine phosphotransferase activity |
| Gene Ontology |
|---|
| mannose-ethanolamine phosphotransferase activity |
| transferase activity, transferring phosphorus-containing groups |
| transferase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000126 | Hydronephrosis |
| HP:0000175 | Cleft palate |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| Disease ID | Disease Name |
|---|---|
| ORPHA:247262 |
|
| OMIM:614749 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026