Defective MOGS causes MOGS-CDG (CDG-2b)

Stable Identifier
R-HSA-4793954
Type
Pathway
Species
Homo sapiens
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After the lipid-linked oligosaccharide (LLO) precursor is attached to the protein, the outer alpha-1,2-linked glucose is removed by by mannosyl-oligosaccharide glucosidase (MOGS). This is a mandatory step for protein folding control and glycan extension. Defects in MOGS are associated with congenital disorder of glycosylation type IIb (CDGIIb), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (De Praeter et al. 2000, Voelker et al. 2002). Type II CDGs refer to defects in the trimming and processing of protein-bound glycans.

Literature References
PubMed ID Title Journal Year
12145188 Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)

Völker, C, De Praeter, CM, Hardt, B, Breuer, W, Kalz-Füller, B, Van Coster, RN, Bause, E

Glycobiology 2002
10788335 A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

De Praeter, CM, Gerwig, GJ, Bause, E, Nuytinck, LK, Vliegenthart, JF, Breuer, W, Kamerling, JP, Espeel, MF, Martin, JJ, De Paepe, AM, Chan, NW, Dacremont, GA, Van Coster, RN

Am J Hum Genet 2000
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
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