NCIt synonyms : CHMP Family, Member 2B Gene; CHMP2.5; ALS17, Formerly Gene; Vacuolar Protein Sorting 2, Yeast, Homolog of, B Gene; VPS2 Homolog B (S. cerevisiae) Gene; VPS2-2; VPS2 Homolog B Gene; DKFZP564O123; CGI-84; FTDALS7; DMT1; Charged Multivesicular Body Protein 2B wt Allele; VPS2B;
NCIt definition : Human CHMP2B wild-type allele is located in the vicinity of 3p11.2 and is approximately
28 kb in length. This allele, which encodes charged multivesicular body protein 2b,
is involved in both multivesicular body (MVB) formation and receptor sorting and metabolism.
Mutation of the gene is associated with frontotemporal dementia and/or amyotrophic
lateral sclerosis 7.;