UniProt | Protein Name |
---|---|
Q92535 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
catalytic activity |
|
|
protein binding |
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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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: February 17, 2025