Gene Symbol | RFT1 |
Entrez Gene ID | 91869 |
Full Name | RFT1 homolog |
Synonyms | CDG1N |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type In, 612015 (3) |