Entrez gene ID | | 25978 |
Official gene symbol | | CHMP2B |
Full name | | chromatin modifying protein 2B |
Aliases | | ,CHMP2.5,DKFZp564O123,DMT1,VPS2-2,VPS2B, |
Gene summary | | This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3p11.2 |
Gene position | | 87276413 - 87304698 Map Viewer |
Gene orientation | | plus |
Gene size | | 28286 bp |
Gene sequence |
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OMIM ID | | 609512 |