Glycosylation and related congenital defects (WP4521)

Glycosylation is the most common postranslational modification. Defects in this pathway lead to autosomal recessive disorders, called Congenital disorders of glycosylation (CDG). Up to date about 50 CDGs have been identified and more are expected to be discovered. This category of metabolic disorders can be divided into four basic groups depending on where the glycosylation process occurs on the molecule. The depicts pathway depicts the group of N-glycosylation. Generally, N-glycosylation processes spread over three cellular compartments - cytosol, endoplasmic reticulum and Golgi apparatus. The associated mortality rate in combination with the limited treatment options for CDG, points out the relevance for further investigations of this pathway. Disorders resulting from an enzyme defect are highlighted in pink. This pathway was inspired by Chapter 30 of the book of Blau (ISBN 3642403360 (978-3642403361)).
last edited


EviSchoenmaker, DeSl, BrittPieters, L Dupuis, IreneHemel, Egonw, Fehrhart, MaintBot, and Finterly

Cited In


Homo sapiens


Inborn Errors of Metabolism (IEM) Pathways Rare Diseases


Disease Ontology: congenital disorder of glycosylation inherited metabolic disorder autosomal recessive disease

Pathway Ontology: N-acetylglucosamine, N-acetylmannosamine and N-acetylneuraminic acid dissimilation pathway altered carbohydrate metabolic pathway disease pathway


Label Type Compact Identifier
30.38 Protein uniprot:Q9UPQ8
ALG13 Protein uniprot:Q9NP73
dolichyl phosphate Metabolite chebi:57683
UDP Metabolite chebi:58223
beta-D-glucose Metabolite chebi:15903
DPAGT1 Protein uniprot:Q9H3H5
UDP-N-acetylalpha-D-glucosamine Metabolite chebi:57705
GlcNAc-PP-Dol Metabolite chebi:58427
dolichyl beta-D-mannosyl phosphate Metabolite chebi:58211
Dolichyl phosphate Metabolite chebi:57683
GMPPB Protein uniprot:Q9Y5P6
GDP Metabolite chebi:58189
30.34 Protein uniprot:P15291
Man5-GlcNac2-PP-Dol Metabolite chebi:132516
DPM2 Protein uniprot:O94777
Man8-GlcNac2-PP-Dol Metabolite chebi:132519
Man7-GlcNac2-PP-Dol Metabolite chebi:132517
Man6-GlcNac2-PP-Dol Metabolite None
Man9-GlcNac2-PP-Dol Metabolite chebi:132520
Glc3Man9-GlcNac2-PP-Dol Metabolite None
Glc2Man9-GlcNac2-PP-Dol Metabolite chebi:132522
GlcMan9-GlcNac2-PP-Dol Metabolite chebi:132521
Glc2Man9-GlcNac2-Prot Metabolite chebi:59082
Glc3Man9-GlcNac2-Prot Metabolite chebi:132537
Man3-GlcNac4-Prot Metabolite chebi:60615
Man3-GlcNac3-Prot Metabolite chebi:60615
Sia2Gal2Man3-GlcNac4-Prot Metabolite None
Gal2Man3-GlcNac4-Prot Metabolite None
SiaGalMan3-GlcNac3-Prot Metabolite None
GDP-mannose Metabolite chebi:57527
Dol-P-Man Metabolite chebi:58211
Mannose 6-Phosphate Metabolite chebi:58735
Mannose 1-phosphate Metabolite chebi:58409
Fructose 6-phosphate Metabolite chebi:61527
30.13 Protein uniprot:Q10469
30.14 Protein uniprot:Q13724
30.15 Protein uniprot:Q13454
30.16 Protein uniprot:Q9H0U3
30.6 Protein uniprot:Q9BVK2
30.3 Protein uniprot:Q9Y672
30.10 Protein uniprot:Q9H6U8
30.5 Protein uniprot:Q9BV10
30.10 Protein uniprot:Q9H6U8
30.33 Protein uniprot:O75352
30.4 Protein uniprot:Q92685
30.2 Protein uniprot:P34949
30.1 Protein uniprot:O15305
30.31 Protein uniprot:O60762
30.32 Protein uniprot:Q9P2X0
Man5GIcNAc2-PP-Dol Metabolite chebi:132515
Dolichol phosphate Metabolite chebi:57683
Dolichol-PP Metabolite chebi:15750
30.39 Protein uniprot:Q9H8P0
30.9 Protein uniprot:Q9BT22
30.8 Protein uniprot:Q9H3H5
30.11 Protein uniprot:Q2TAA5
Man3GIcNAc2-PP-Dol Metabolite chebi:132511
Man4GIcNAc2-PP-Dol Metabolite None
Dolichol Metabolite chebi:16091
Polyprenol Metabolite chebi:67132
Man2GIcNAc2PP-Dol Metabolite chebi:132510
Mevalonate Metabolite chebi:17710
ManGlcNAc2-PP-Dol Metabolite chebi:58472
30.7 Protein uniprot:Q9H553
GlcNAc2-PP-Dol Metabolite chebi:57269
dolichyl phosphate Metabolite chebi:57683
dolichyl beta-D-mannosyl phosphate Metabolite chebi:58211
ALG14 Protein ncbigene:199857


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