Chromatin Modifying Protein 2B (CHMP2B)

CHMP2B encodes a component of the heteromeric ESCRT-III complex 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.The deduced 213-amino acid protein contains coiled-coil, Snf-7, and acidic C-terminal domains. Two minor transcripts of approximately 1.9 and 1.35 kb were also identified, suggestive of alternative 5-prime and 3-prime untranslated regions.