Background: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.
仕様
Synonyms:ALS17,Charged multivesicular body protein 2b,CHM2B,CHMP family, member 2B,CHMP2.5,CHMP2b,Chromatin modifying protein 2b,Chromatin-modifying protein 2b,DMT1,hVps2-2,Vacuolar protein sorting 2, yeast, homolog of, B,Vacuolar protein sorting 2-2,Vacuolar protein sorting-associated protein 2-2,VPS2 homolog B,Vps2-2,VPS2B