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Genetics Home Reference: your guide to understanding genetic conditions
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CHMP gene family

Reviewed August 2010

What are the CHMP genes?

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.

Which genes are included in the CHMP gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CHMP family (http://www.genenames.org/genefamily/chmp.php).

Genetics Home Reference summarizes the normal function and health implications of this member of the CHMP gene family: CHMP2B.

What conditions are related to genes in the CHMP gene family?

Genetics Home Reference includes these conditions related to genes in the CHMP gene family:

  • CHMP2B-related frontotemporal dementia

Where can I find additional information about the CHMP gene family?

You may find the following resources about the CHMP gene family helpful.

  • Molecular Biology of the Cell (fourth edition, 2002): Multivesicular Bodies Form on the Pathway to Late Endosomes (http://www.ncbi.nlm.nih.gov/books/NBK26870/) (U.S. National Library of Medicine)
  • Molecular Biology of the Cell (fourth edition, 2002): The Endocytic Pathway From the Plasma Membrane to Lysosomes (figure) (http://www.ncbi.nlm.nih.gov/books/NBK26870/figure/A2402/) (U.S. National Library of Medicine)

What glossary definitions help with understanding the CHMP gene family?

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 (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the CHMP gene family.

  • Howard TL, Stauffer DR, Degnin CR, Hollenberg SM. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. J Cell Sci. 2001 Jul;114(Pt 13):2395-404. (http://www.ncbi.nlm.nih.gov/pubmed/11559748?dopt=Abstract)
  • Hurley JH. The ESCRT complexes. Crit Rev Biochem Mol Biol. 2010 Dec;45(6):463-87. doi: 10.3109/10409238.2010.502516. Epub 2010 Jul 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20653365?dopt=Abstract)
  • Hurley JH. ESCRT complexes and the biogenesis of multivesicular bodies. Curr Opin Cell Biol. 2008 Feb;20(1):4-11. doi: 10.1016/j.ceb.2007.12.002. Epub 2008 Jan 28. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18222686?dopt=Abstract)
  • Lee JA, Gao FB. ESCRT, autophagy, and frontotemporal dementia. BMB Rep. 2008 Dec 31;41(12):827-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19123971?dopt=Abstract)
  • Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. Genomics. 2006 Sep;88(3):333-46. Epub 2006 May 30. (http://www.ncbi.nlm.nih.gov/pubmed/16730941?dopt=Abstract)

 

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.

 
Reviewed: August 2010
Published: December 16, 2014