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CHMP2B charged multivesicular body protein 2B

Also known as: DMT1; ALS17; VPS2B; VPS2-2; CHMP2.5

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]

Genomic context

Location:
3p11.2
Sequence:
Chromosome: 3; NC_000003.12 (87227263..87255548)
Total number of exons:
7

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