The N-glycan precursor is flipped across the ER membrane, moving it from the cytosolic side to the ER lumenal side. The exact mechanism of this translocation is not well understood but protein RFT1 homolog (RFT1) is known to be involved (Helenius et al. 2002). Defects in RFT1 are associated with congenital disorder of glycosylation 1n (RFT1-CDG, CDG-1n). The disease is a multi-system disorder characterised by under-glycosylated serum glycoproteins. Early-onset developmental retardation, dysmorphic features, hypotonia, coagulation disorders and immunodeficiency are reported features of this disorder (Haeuptle et al. 2008).
Helenius, J, Ng, DT, Marolda, CL, Walter, P, Valvano, MA, Aebi, M
Haeuptle, MA, Pujol, FM, Neupert, C, Winchester, B, Kastaniotis, AJ, Aebi, M, Hennet, T
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