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

Stable Identifier
R-HSA-5619078
Type
Pathway
Species
Homo sapiens
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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 (Lubke et al. 2001, Liu & Hirschberg 2013).

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
22527830 Developmental diseases caused by impaired nucleotide sugar transporters

Liu, L, Hirschberg, CB

Glycoconj. J. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
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