CHMP2B wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - ALS17, Formerly Gene - CGI-84 - CHMP Family, Member 2B Gene - CHMP2.5 - Charged Multivesicular Body Protein 2B wt Allele - DKFZP564O123 - DMT1 - FTDALS7 - VPS2 Homolog B (S. cerevisiae) Gene - VPS2 Homolog B Gene - VPS2-2 - VPS2B - Vacuolar Protein Sorting 2, Yeast, Homolog of, B Gene