Defective B4GALT1 does not add Gal to N-glycan

Stable Identifier
R-HSA-4793956
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Golgi lumen, Golgi membrane
ReviewStatus
5/5
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Defective B4GALT1 does not add Gal to N-glycan
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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
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Catalyst Activity

beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity of B4GALT1 R345Kfs*6 [Golgi membrane]

Physical Entity
B4GALT1 R345Kfs*6 [Golgi membrane] (Homo sapiens)
Activity
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)
Normal reaction
Addition of galactose by beta 4-galactosyltransferases (Homo sapiens)
Functional status

Loss of function of B4GALT1 R345Kfs*6 [Golgi membrane]

Normal Entity
Disease Entity
Status
Disease
Cross References
Mondo
Authored
Jassal, B  (2013-07-29)
Reviewed
Belaya, K  (2014-10-31)
Created
Jassal, B  (2013-10-29)
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