GDP Fucose Transporter 1 (FUCT1)

The SLC35C1 gene encodes a GDP-fucose transmembrane transporter (FucT1) located in the Golgi apparatus .Congenital disorder of glycosylation type IIc (CDG IIc, CDG2C), also known as leukocyte adhesion deficiency II (LAD2), is characterized by a lack of fucosylated glycoconjugates, including selectin ligands such as selectin P (SELP), causing immunodeficiency and severe mental and growth retardation. Study of cultured cells suggested that the transport of GDP-fucose into isolated Golgi vesicles of LAD2 cells is reduced. One of these clones reestablished expression of fucosylated glycoconjugates with high efficiency and allowed them to identify a human homolog with 55% identity to the C. elegans cDNA, which also directed reexpression of fucosylated glucoconjugates. Both the human and yeast proteins were localized to the Golgi.