Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP

Stable Identifier
R-HSA-5651942
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 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. A loss-of-function mutation causing CDG2F is V93Cfs*17 (Martinez-Duncker et al. 2005).

Literature References
PubMed ID Title Journal Year
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
Catalyst Activity
Catalyst Activity
Title
CMP-N-acetylneuraminate transmembrane transporter activity of SLC35A1 V93Cfs*17 [Golgi membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
Authored
Reviewed
Created
Cite Us!