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Charged multivesicular body protein 2B (HGNC Symbol)
Entrez 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, Jul 2008]
Q9UQN3 [Direct mapping] Charged multivesicular body protein 2b B2RE76 [Target identity:100%; Query identity:100%] Chromatin modifying protein 2B; cDNA FLJ11303 fis, clone PLACE1009995, highly similar to Charged multivesicular body protein 2b; cDNA FLJ11318 fis, clone PLACE1010274, highly similar to Charged multivesicular body protein 2b; cDNA, FLJ95104
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Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)