The human gene SLC35C1 encodes the GDP-fucose transporter FUCT1. It resides on the Golgi membrane and mediates the transport of GDP-fucose (GDP-Fuc) formed from a de novo pathway and/or a salvage pathway into the Golgi lumen. Defects in SLC35C1 causes the congenital disorder of glycosylation type 2C, also known as leukocyte adhesion deficiency type II (LAD2) (Lubke et al. 2001).
Lübke, T, Marquardt, T, Etzioni, A, Hartmann, E, von Figura, K, Körner, C
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