Article
A missense mutation in the FUT6 gene results in total absence of alpha3-fucosylation of human alpha1-acid glycoprotein.
The Journal of biological chemistry - 14 Jun 1996
Brinkman-Van der Linden E C, Mollicone R, Oriol R, Larson G, Van den Eijnden D H, Van Dijk W
Abstract excerpt
The major alpha3-fucosyltransferase activity in human plasma is encoded by the gene for fucosyltransferase VI (FUT6). A missense mutation (Gly-739 --> Ala) in this gene is responsible for deficiency of enzyme activity in plasma. To examine whether this fucosyltransferase is the sole enzyme responsible for the alpha3-fucosylation of serum glycoproteins in the liver, we studied the fucosylation of three...
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