RFT1
| RFT1 | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||
| Aliases | RFT1, CDG1N, RFT1 homolog | ||||||||||||||||
| External IDs | MGI: 3607791 HomoloGene: 5343 GeneCards: RFT1 | ||||||||||||||||
| Genetically Related Diseases | |||||||||||||||||
| smallpox[1] | |||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
| Ensembl | |||||||||||||||||
| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| Location (UCSC) | Chr 3: 53.09 – 53.13 Mb | Chr 14: 30.65 – 30.69 Mb | |||||||||||||||
| PubMed search | [2] | [3] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Protein RFT1 homolog is a protein that in humans is encoded by the RFT1 gene.[4][5]
Defects are associated with congenital disorder of glycosylation type 1N.[5]
See also
References
- ↑ "Diseases that are genetically associated with RFT1 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: RFT1 homolog (S. cerevisiae)".
- 1 2 Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T (March 2008). "Human RFT1 deficiency leads to a disorder of N-linked glycosylation". Am. J. Hum. Genet. 82 (3): 600–6. doi:10.1016/j.ajhg.2007.12.021. PMC 2427296
. PMID 18313027.
Further reading
- Helenius J, Ng DT, Marolda CL, et al. (2002). "Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.". Nature. 415 (6870): 447–50. doi:10.1038/415447a. PMID 11807558.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Rose JE, Behm FM, Drgon T, et al. "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.". Mol. Med. 16 (7-8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
External links
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