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

Stable Identifier
R-HSA-5619078
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Pathway
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Homo sapiens
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5/5
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Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
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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 (Lubke et al. 2001, Liu & Hirschberg 2013).
Literature References
PubMed ID Title Journal Year
22527830 Developmental diseases caused by impaired nucleotide sugar transporters

Hirschberg, CB, Liu, L

Glycoconj. J. 2013
11326280 Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

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

Nat Genet 2001
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as an event of
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Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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