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).
Ishida, N, Miura, N, Yoshioka, S, Kawakita, M
Martinez-Duncker, I, Dupré, T, Piller, V, Piller, F, Candelier, JJ, Trichet, C, Tchernia, G, Oriol, R, Mollicone, R
© 2021 Reactome