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). CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation (Martinez-Duncker et al. 2005).
Mollicone, R, Tchernia, G, Trichet, C, Dupré, T, Oriol, R, Candelier, JJ, Piller, V, Piller, F, Martinez-Duncker, I
Ishida, N, Miura, N, Kawakita, M, Yoshioka, S
CMP-N-acetylneuraminate transmembrane transporter activity of SLC35A1 [Golgi membrane]
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