Reaction: Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen
The human gene SLC35C1 encodes a GDP-fucose transporter that resides on the Golgi membrane and mediates the transport of GDP-fucose into the Golgi lumen. Defects in SLC35C1 cause the congenital disorder of glycosylation type 2C (CDG2C aka leukocyte adhesion deficiency type II, LAD2), an autosomal recessive disorder characterised by moderate to severe psychomotor retardation, mild dysmorphism and impaired neutrophil motility. Mutations causing CDG2C are R147C, T308*, E31* and F168del (Lubke et al. 2001, Dauber et al. 2014).
Reaction - small molecule participants:
GDP-Fuc [cytosol]
Reactome.org reaction link: R-HSA-5653596
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Reaction input - small molecules:
GDP-L-fucose
Reaction output - small molecules:
Reactome.org link: R-HSA-5653596