Price range: $268.00 through $328.00
Background:
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],
| Size | 50μL/100μL |
| Target | RFT1 |
| Reactivity | Human, Mouse |
| Applications | WB |
| MW(Calculated) | 60kD |
| MW(Observed) | |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-2000 |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | Synthesized peptide derived from human RFT1 AA range: 451-501 |
| Specificity | This antibody detects endogenous levels of RFT1 at Human/Mouse |
| Gene Name | RFT1 |
| Protein Name | RFT1 |
| Other Name | |
| Species | Human |
| Gene ID | 91869 |
| Uniprot | Q96AA3, |
| Species.1 | Mouse |
| Gene ID.1 | 328370 |
| Uniprot.1 | Q8C3B8 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Membrane; Multi-pass membrane protein . |
| Tissue Expression | |
| Signaling_pathway | |
| Research Areas | |
| Function | Disease:Defects in RFT1 are the cause of congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]. CDGs are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. CDGs present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Type 1 CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin.,Function: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.,similarity:Belongs to the RFT1 family., |
