phosphatidylinositol glycan anchor biosynthesis class M
| UniProt | Protein Name |
|---|---|
| Q9H3S5 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| glycosylphosphatidylinositol-mannosyltransferase I complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| mannosyltransferase activity | ||
| glycolipid mannosyltransferase activity | ||
| protein binding | ||
| alpha-1,4-mannosyltransferase activity |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000750 | Delayed speech and language development |
| HP:0001409 | Portal hypertension |
| HP:0001744 | Splenomegaly |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002240 | Hepatomegaly |
| HP:0003593 | Infantile onset |
| HP:0004936 | Venous thrombosis |
| HP:0005561 | Abnormal bone marrow cell morphology |
| HP:0010819 | Atonic seizure |
| Disease ID | Disease Name |
|---|---|
| OMIM:610293 |
|
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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