The human gene SLC35C1 encodes a GDP-fucose transporter that...

created [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
dbId 5653591
displayName The human gene SLC35C1 encodes a GDP-fucose transporter that...
modified [InstanceEdit:9838639] D'Eustachio, Peter, 2023-06-23
schemaClass Summation
text 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).
Cite Us!