CHMP2B
Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.[3][4]
Mutations of this gene cause chromosome 3-linked frontotemporal dementia (FTD3; OMIM 600795)
In French families with frontotemporal dementia, CHMP2B mutations were found to be a rare cause of the disease.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Howard TL, Stauffer DR, Degnin CR, Hollenberg SM (Sep 2001). "CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins". J Cell Sci. 114 (Pt 13): 2395–404. PMID 11559748.
- ↑ "Entrez Gene: CHMP2B chromatin modifying protein 2B".
- ↑ Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A (July 2010). "CHMP2B mutations are rare in French families with frontotemporal lobar degeneration". J Neurol. 257 (12): 2032–6. PMID 20625756. doi:10.1007/s00415-010-5655-8.
External links
- GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia
- Human CHMP2B genome location and CHMP2B gene details page in the UCSC Genome Browser.
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene. 138 (1–2): 171–4. PMID 8125298. doi:10.1016/0378-1119(94)90802-8.
- Brown J, Ashworth A, Gydesen S, et al. (1996). "Familial non-specific dementia maps to chromosome 3". Hum. Mol. Genet. 4 (9): 1625–8. PMID 8541850. doi:10.1093/hmg/4.9.1625.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3.
- Ashworth A, Lloyd S, Brown J, et al. (1999). "Molecular genetic characterisation of frontotemporal dementia on chromosome 3". Dementia and geriatric cognitive disorders. 10 Suppl 1: 93–101. PMID 10436350. doi:10.1159/000051222.
- Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res. 10 (5): 703–13. PMC 310876
. PMID 10810093. doi:10.1101/gr.10.5.703. - Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. PMC 311072 . PMID 11230166. doi:10.1101/gr.GR1547R.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. PMC 1083732 . PMID 11256614. doi:10.1093/embo-reports/kvd058.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Strack B, Calistri A, Craig S, et al. (2003). "AIP1/ALIX is a binding partner for HIV-1 p6 and EIAV p9 functioning in virus budding". Cell. 114 (6): 689–99. PMID 14505569. doi:10.1016/S0092-8674(03)00653-6.
- von Schwedler UK, Stuchell M, Müller B, et al. (2003). "The protein network of HIV budding". Cell. 114 (6): 701–13. PMID 14505570. doi:10.1016/S0092-8674(03)00714-1.
- Martin-Serrano J, Yarovoy A, Perez-Caballero D, et al. (2003). "Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins". Proc. Natl. Acad. Sci. U.S.A. 100 (21): 12414–9. PMC 218772 . PMID 14519844. doi:10.1073/pnas.2133846100.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.
- Kelleher T, Ryan E, Barrett S, et al. (2005). "DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis". Blood Cells Mol. Dis. 33 (1): 35–9. PMID 15223008. doi:10.1016/j.bcmd.2004.04.005.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Takeuchi K, Bjarnason I, Laftah AH, et al. (2005). "Expression of iron absorption genes in mouse large intestine". Scand. J. Gastroenterol. 40 (2): 169–77. PMID 15764147. doi:10.1080/00365520510011489.
- Skibinski G, Parkinson NJ, Brown JM, et al. (2005). "Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia". Nat. Genet. 37 (8): 806–8. PMID 16041373. doi:10.1038/ng1609.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. PMID 16189514. doi:10.1038/nature04209.
- Cannon A, Baker M, Boeve B, et al. (2006). "CHMP2B mutations are not a common cause of frontotemporal lobar degeneration". Neurosci. Lett. 398 (1–2): 83–4. PMID 16431024. doi:10.1016/j.neulet.2005.12.056.
- Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. PMC 1459365 . PMID 16565220. doi:10.1073/pnas.0507066103.
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