CHMP2B
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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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External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia
- Human CHMP2B genome location and CHMP2B gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q9UQN3 (Charged multivesicular body protein 2b) at the PDBe-KB.
Further reading
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