Defective B4GALT1 does not transfer Gal to the keratan chain

Stable Identifier
R-HSA-3656230
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The family of beta 4-galactosyltransferases (B4GALTs) is composed by at least six known members that mediate the transfer of galactose to N-glycan structures and either to begin or elongate keratan chains. Defective B4GALT1 is associated with congenital disorder of glycosylation type IId (B4GALT1-CDG, CDG-2d; MIM:607091), in which clinical symptoms are dominated by dysmorphic features, psychomotor and mental retardation, hypotonia, as well as blood coagulation abnormalities (Hansske et al. 2002). The mutant R345Kfs*6 results in a truncated, inactive polypeptide. Analysis of oligosaccharides from serum transferrin from these patients reveals loss of sialic acid and galactose residues (Hansske et al. 2002).

Literature References
PubMed ID Title Journal Year
11901181 Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Hansske, B, Thiel, C, Lübke, T, Hasilik, M, Höning, S, Peters, V, Heidemann, PH, Hoffmann, GF, Berger, EG, von Figura, K, Körner, C

J Clin Invest 2002
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity of B4GALT1 R345Kfs*6 [Golgi membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
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