Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen

Stable Identifier
R-HSA-5653596
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

The human gene SLC35C1 encodes the GDP-fucose transporter FUCT1. It resides on the Golgi membrane and mediates the transport of GDP-fucose into the Golgi lumen. Defects in SLC35C1 causes 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).

Literature References
PubMed ID Title Journal Year
11326280 Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

Lübke, T, Marquardt, T, Etzioni, A, Hartmann, E, von Figura, K, Körner, C

Nat Genet 2001
24403049 Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

Dauber, A, Ercan, A, Lee, J, James, P, Jacobs, PP, Ashline, DJ, Wang, SR, Miller, T, Hirschhorn, JN, Nigrovic, PA, Sackstein, R

Hum. Mol. Genet. 2014
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
GDP-fucose transmembrane transporter activity of SLC35C1 mutants [Golgi membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
Authored
Reviewed
Created
Cite Us!