Gene Review:
SLC35C1 - solute carrier family 35 (GDP-fucose...
Homo sapiens
Synonyms:
CDG2C, FLJ11320, FUCT1, GDP-fucose transporter 1, Solute carrier family 35 member C1
- Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Lübke, T., Marquardt, T., Etzioni, A., Hartmann, E., von Figura, K., Körner, C. Nat. Genet. (2001)
- Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc. Ishikawa, H.O., Higashi, S., Ayukawa, T., Sasamura, T., Kitagawa, M., Harigaya, K., Aoki, K., Ishida, N., Sanai, Y., Matsuno, K. Proc. Natl. Acad. Sci. U.S.A. (2005)
- Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter. Helmus, Y., Denecke, J., Yakubenia, S., Robinson, P., Lühn, K., Watson, D.L., McGrogan, P.J., Vestweber, D., Marquardt, T., Wild, M.K. Blood (2006)
- Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Hidalgo, A., Ma, S., Peired, A.J., Weiss, L.A., Cunningham-Rundles, C., Frenette, P.S. Blood (2003)
- Identification and molecular cloning of a functional GDP-fucose transporter in Drosophila melanogaster. Lühn, K., Laskowska, A., Pielage, J., Klämbt, C., Ipe, U., Vestweber, D., Wild, M.K. Exp. Cell Res. (2004)
- Differential gene expression of GDP-L-fucose-synthesizing enzymes, GDP-fucose transporter and fucosyltransferase VII. Niittymäki, J., Mattila, P., Renkonen, R. APMIS (2006)
- Hematologically important mutations: leukocyte adhesion deficiency. Roos, D., Law, S.K. Blood Cells Mol. Dis. (2001)