Gene Symbol | CHMP2B |
Entrez Gene ID | 25978 |
Full Name | charged multivesicular body protein 2B |
Synonyms | ALS17,CHMP2.5,DMT1,VPS2-2,VPS2B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Dementia, familial, nonspecific, 600795 (3); Amyotrophic lateral sclerosis 17, 614696 (3) |