Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)

Stable Identifier
R-HSA-5663020
Type
Pathway
Species
Homo sapiens
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The human gene SLC35A1 encodes the CMP-sialic acid transporter which mediates the antiport of CMP-sialic acid (CMP-Neu5Ac) into the Golgi lumen in exchange for CMP (Ishida et al. 1996). Defects in SLC35A1 are the cause of congenital disorder of glycosylation type 2F (CDG2F; MIM:603585), characterised by under-glycosylated serum proteins. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. These multisystem disorders present with a wide spectrum of phenotypes such as disorders of nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders and immunodeficiency (Martinez-Duncker et al. 2005, Song 2013).

Literature References
PubMed ID Title Journal Year
23506892 Roles of the nucleotide sugar transporters (SLC35 family) in health and disease

Song, Z

Mol. Aspects Med. 2013
15576474 Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter

Martinez-Duncker, I, Dupré, T, Piller, V, Piller, F, Candelier, JJ, Trichet, C, Tchernia, G, Oriol, R, Mollicone, R

Blood 2005
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
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