RTF1
MIM.611633 15q15.1
Pathology
Human RFT1 deficiency leads to a disorder of N-linked glycosylation. (#18313027#)
N-linked glycosylation is an essential posttranslational modification of proteins in eukaryotes. The substrate of N-linked glycosylation, dolichol pyrophosphate (DolPP)-GlcNAc(2)Man(9)Glc(3), is assembled through a complex series of ordered reactions requiring the translocation of the intermediate DolPP-GlcNAc(2)Man(5) structure across the endoplasmic-reticulum membrane.
References
Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T. Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet. 2008 Mar;82(3):600-6. PMID: #18313027#