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Reviewed April 2007
What is the official name of the CLCN1 gene?
The official name of this gene is “chloride channel, voltage-sensitive 1.”
CLCN1 is the gene's official symbol. The CLCN1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CLCN1 gene?
The CLCN1 gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key role in a cell's ability to generate and transmit electrical signals. Some CLC channels regulate the flow of chloride ions across cell membranes, while others transport chloride ions within cells.
The CLCN1 gene provides instructions for making a chloride channel called ClC-1. These channels are abundant in muscles used for movement (skeletal muscles). For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of certain ions into and out of muscle cells. ClC-1 channels, which span the cell membrane, control the flow of chloride ions into these cells. This influx stabilizes the cells' electrical charge, which prevents muscles from contracting abnormally.
ClC-1 channels are made of two identical protein subunits, each produced from the CLCN1 gene. Although each subunit forms a separate opening (pore) that allows chloride ions to pass through, the two proteins work together to regulate the flow of chloride ions into skeletal muscle cells.
Does the CLCN1 gene share characteristics with other genes?
The CLCN1 gene belongs to a family of genes called CLCN (chloride channels, voltage-sensitive).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CLCN1 gene related to health conditions?
Where is the CLCN1 gene located?
Cytogenetic Location: 7q35
Molecular Location on chromosome 7: base pairs 143,013,218 to 143,049,096
The CLCN1 gene is located on the long (q) arm of chromosome 7 at position 35.
More precisely, the CLCN1 gene is located from base pair 143,013,218 to base pair 143,049,096 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CLCN1?
You and your healthcare professional may find the following resources about CLCN1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CLCN1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CLCN1?
action potential ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; cell membrane ; channel ; chloride ; chloride channels ; chloride ion ; Cl- ; contraction ; gene ; inheritance ; ions ; myotonia ; protein ; recessive ; skeletal muscle ; subunit ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
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? in the Handbook.