Meta-Biol

• Pathways

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. In a patient with RFT1-CDG, Haeuptle et al. identified a homozygous C-T transition at nucleotide 199, resulting in a substitution of cysteine for arginine at codon 67 (R67C) (Haeuptle et al. 2008).