Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP

Stable Identifier
Reaction [transition]
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. 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

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

Blood 2005
Catalyst Activity

CMP-N-acetylneuraminate transmembrane transporter activity of SLC35A1 V93Cfs*17 [Golgi membrane]

Normal reaction
Functional status

Loss of function of SLC35A1 V93Cfs*17 [Golgi membrane]

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