Handbook of Glycosyltransferases and Related Genes pp 1403-1411 | Cite as
GDP-Fucose Transporter 1 (SLC35C1)
GDP-fucose is used by fucosyltransferases in both the Golgi and endoplasmic reticulum (ER). As it is synthesized in the cytoplasm, transport into the lumen of the secretory pathway organelles is required. The first indication that GDP-fucose, like other nucleotide sugars, is transported by a carrier-mediated process was obtained by Sommers and Hirschberg (1982). The gene encoding the GDP-fucose transporter was identified independently by two groups using complementation cloning in patient-derived cells (Lübke et al. 2001; Lühn et al. 2001). These patients were suffering from leukocyte adhesion deficiency II (LAD II), also known as congenital disorder of glycosylation (CDG) type IIc. LAD II patients were originally described as having a deficiency of the fucosylated glycan Sialyl-Lewis X (Etzioni et al. 1992; Etzioni 1994; Phillips et al. 1995). The lack of fucose likely prevents interaction of the endothelial adhesion molecules E- and P-selectin with glycoproteins present on leukocytes. The latter are then unable to migrate through the endothelial layer to reach the sites of inflammation (Wild et al. 2002). In addition to the immunological problems, LAD II patients present characteristic symptoms of CDG patients such as severe mental and growth retardation (Etzioni 2010).
KeywordsNucleotide Sugar SLC35 Family Leukocyte Adhesion Deficiency Aleuria Aurantia Lectin Complementation Cloning
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