CHMP2B
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Template:Cs1 config Template:Short description An Error has occurred retrieving Wikidata item for infobox Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.[1][2] It forms part of one of the endosomal sorting complexes required for transport (ESCRT) - specifically ESCRT-III - which are a series of complexes involved in cell membrane remodelling. CHMP2B forms long chains that spiral around the neck of a budding vesicle. Along with the other components of ESCRT-III, CHMP2B constricts the neck of the vesicle just before it is cleaved away from the membrane.
Mutations of this gene cause chromosome 3-linked frontotemporal dementia (FTD3), which has been described in several members of one Danish family [1]. In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.[3]
References
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- ^ Page Module:Citation/CS1/styles.css has no content.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. doi:10.1242/jcs.114.13.2395. PMID 11559748.
- ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: CHMP2B chromatin modifying protein 2B".
- ^ Page Module:Citation/CS1/styles.css has no content.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. doi:10.1007/s00415-010-5655-8. PMID 20625756. S2CID 21422763.
External links
- GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia
- Template:UCSC gene info
- Template:PDBe-KB2
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Brown J, Ashworth A, Gydesen S, et al. (1996). "Familial non-specific dementia maps to chromosome 3". Hum. Mol. Genet. 4 (9): 1625–8. doi:10.1093/hmg/4.9.1625. PMID 8541850.
- Page Module:Citation/CS1/styles.css has no content.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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Page Module:Citation/CS1/styles.css has no content.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. doi:10.1159/000051222. PMID 10436350. S2CID 28623562.
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