congenital disorder of glycosylation type II

Summary
Definition
A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
Super Class
congenital disorder of glycosylation
Disease Ontology
DOID:0050571
Mondo Disease Ontology
MeSH
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2542 SLC37A4 solute carrier family 37 member 4
2590 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
80267 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3
83548 COG3 component of oligomeric golgi complex 3
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
40981 nac neuronally altered carbohydrate

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025