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Literature summary for 2.4.1.38 extracted from

  • Hansske, B.; Thiel, C.; Lubke, T.; Hasilik, M.; Honing, S.; Peters, V.; Heidemann, P.H.; Hoffmann, G.F.; Berger, E.G.; Von Figura, K.; Korner, C.
    Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId (2002), J. Clin. Invest., 109, 725-733.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
expression of mutant cDNA from a patient with the congenital disorder of glycosylation type IId leads to the synthesis of a truncated, inactive polypeptide, which is localized to the endoplasmic reticulum Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
UDPgalactose + N-acetylglucosaminyl at the non-reducing ends of protein-bound oligosaccharides Homo sapiens main enzyme responsible for the transfer of galactose residues from UDPgalactose into terminal N-acetylglucosamine residues of complex-type oligosaccharides in newly synthesized glycoproteins in the Golgi apparatus. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId, a severe neurologic disease characterized by a hydrocephalus, myopathy and blood-clotting defects ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDPgalactose + N-acetylglucosaminyl at the non-reducing ends of protein-bound oligosaccharides main enzyme responsible for the transfer of galactose residues from UDPgalactose into terminal N-acetylglucosamine residues of complex-type oligosaccharides in newly synthesized glycoproteins in the Golgi apparatus. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId, a severe neurologic disease characterized by a hydrocephalus, myopathy and blood-clotting defects Homo sapiens ?
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 ?