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Genes in the CHMP family provide instructions for making parts (subunits) of a group of proteins known as the ESCRT-III complex. This complex helps transport other proteins from the cell membrane to the interior of the cell, a process known as endocytosis. In particular, the ESCRT-III complex is involved in the endocytosis of proteins that need to be broken down (degraded) by the cell. The complex helps sort these proteins into structures called multivesicular bodies (MVBs), which deliver them to lysosomes. Lysosomes are compartments within cells that digest and recycle many different types of molecules.
Only one member of the CHMP gene family, CHMP2B, has been associated with disease. Mutations in the CHMP2B gene cause a rare, progressive brain disorder called CHMP2B-related frontotemporal dementia.
The CHMP gene family was originally named "chromatin modifying proteins" based on the structure of CHMP1A, the first gene identified as part of the family. The protein produced from this gene was predicted to have a role in turning off (suppressing) the activity of other genes by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. However, it is unknown whether genes in the CHMP family (including CHMP1A) actually perform this function. Most researchers now refer to this family as charged multivesicular body proteins.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of this member of the CHMP gene family: CHMP2B.
Genetics Home Reference includes these conditions related to genes in the CHMP gene family:
You may find the following resources about the CHMP gene family helpful.
autophagy ; cell ; cell membrane ; chromatin ; dementia ; DNA ; endocytosis ; endosomes ; gene ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the CHMP gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.