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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).
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 these members of the CLCN gene family: CLCN1, CLCN5, CLCN7, CLCNKA, and CLCNKB.
Genetics Home Reference includes these conditions related to genes in the CLCN gene family:
You may find the following resources about the CLCN gene family helpful.
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.
These sources were used to develop the Genetics Home Reference summary for the CLCN 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.