Aliases for RFT1 Gene
External Ids for RFT1 Gene
Previous GeneCards Identifiers for RFT1 Gene
This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
GeneCards Summary for RFT1 Gene
RFT1 (RFT1 Homolog) is a Protein Coding gene. Diseases associated with RFT1 include congenital disorder of glycosylation, type in and shaheen syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include lipid transporter activity. An important paralog of this gene is ENSG00000272305.
UniProtKB/Swiss-Prot for RFT1 Gene
May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.