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

Reviewed June 2013

What are the CLCN genes?

Genes in the CLCN family provide instructions for making proteins that move negatively charged atoms of chlorine (chloride ions) across cell membranes. The CLCN family has nine known member genes. Some of these genes provide instructions for making chloride channels, which allow chloride ions to flow passively into and out of cells. Other genes provide instructions for making exchangers, which actively exchange chloride ions for other types of ions (such as hydrogen ions).

CLCN chloride channels and exchangers are found in cells throughout the body. They are involved in many different processes, including tensing (contraction) of muscles, kidney function, and bone remodeling (a normal process in which old bone is removed and new bone is created to replace it). Mutations in CLCN genes have been found to cause a variety of conditions, including a muscle disease called myotonia congenita (CLCN1); a brain disorder called leukoencephalopathy (CLCN2); kidney diseases called Dent disease (CLCN5), Bartter syndrome (CLCNKA and CLCNKB), and Gitelman syndrome (CLCNKB); and a bone disease called osteopetrosis (CLCN7).

Which genes are included in the CLCN gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CLCN family (http://www.genenames.org/genefamilies/CLCNS).

Genetics Home Reference summarizes the normal function and health implications of these members of the CLCN gene family: CLCN1, CLCN5, CLCN7, CLCNKA, and CLCNKB.

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

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

  • Bartter syndrome
  • Dent disease
  • Gitelman syndrome
  • hereditary hypophosphatemic rickets
  • myotonia congenita
  • osteopetrosis

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

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

  • Neuromuscular Disease Center, Washington University: Chloride Channels (http://neuromuscular.wustl.edu/mother/chan.html)

What glossary definitions help with understanding the CLCN gene family?

bilateral ; bone remodeling ; calcium ; cell ; channel ; chloride ; chloride channels ; congenital ; contraction ; digestive ; distal ; fibrosis ; gene ; His ; hydrogen ions ; infertility ; inherited ; intracellular ; ions ; kb ; kidney ; leukoencephalopathy ; mucus ; muscular dystrophy ; myotonia ; protein ; syndrome ; transmembrane ; vas deferens ; voltage

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 CLCN gene family.

  • Accardi A, Picollo A. CLC channels and transporters: proteins with borderline personalities. Biochim Biophys Acta. 2010 Aug;1798(8):1457-64. doi: 10.1016/j.bbamem.2010.02.022. Epub 2010 Feb 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20188062?dopt=Abstract)
  • Planells-Cases R, Jentsch TJ. Chloride channelopathies. Biochim Biophys Acta. 2009 Mar;1792(3):173-89. doi: 10.1016/j.bbadis.2009.02.002. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19708126?dopt=Abstract)
  • Jentsch TJ. CLC chloride channels and transporters: from genes to protein structure, pathology and physiology. Crit Rev Biochem Mol Biol. 2008 Jan-Feb;43(1):3-36. doi: 10.1080/10409230701829110 . Review. (http://www.ncbi.nlm.nih.gov/pubmed/18307107?dopt=Abstract)
  • Jentsch TJ, Neagoe I, Scheel O. CLC chloride channels and transporters. Curr Opin Neurobiol. 2005 Jun;15(3):319-25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15913981?dopt=Abstract)
  • Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22. (http://www.ncbi.nlm.nih.gov/pubmed/23707145?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: June 2013
Published: September 15, 2014