Defective RFT1 causes RFT1-CDG (CDG-1n)

Stable Identifier
R-HSA-4570571
Type
Pathway
Species
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
11807558 Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein

Helenius, J, Ng, DT, Marolda, CL, Walter, P, Valvano, MA, Aebi, M

Nature 2002
18313027 Human RFT1 deficiency leads to a disorder of N-linked glycosylation

Haeuptle, MA, Pujol, FM, Neupert, C, Winchester, B, Kastaniotis, AJ, Aebi, M, Hennet, T

Am J Hum Genet 2008
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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