Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)

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.

Summary from Reactome (R-HSA-5619078), read 2026-09-23.