Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
CLCN7

CLCN7

Reviewed September 2010

What is the official name of the CLCN7 gene?

The official name of this gene is “chloride channel, voltage-sensitive 7.”

CLCN7 is the gene's official symbol. The CLCN7 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 CLCN7 gene?

The CLCN7 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 CLCN7 gene provides instructions for making a chloride channel called ClC-7. These channels are abundant in cells throughout the body. They are particularly important for the normal function of osteoclasts, which are specialized cells that break down bone tissue. Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy.

ClC-7 channels help regulate the relative acidity (pH) of osteoclasts. These channels transport two negatively charged chloride ions out of these cells for every positively charged hydrogen atom (hydrogen ion) that flows in. In this way, ClC-7 channels help balance the acidic environment that osteoclasts use to dissolve bone tissue. The pH inside and outside osteoclasts must be carefully controlled for these cells to break down bone effectively.

Does the CLCN7 gene share characteristics with other genes?

The CLCN7 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 CLCN7 gene related to health conditions?

osteopetrosis - caused by mutations in the CLCN7 gene

More than 50 mutations in the CLCN7 gene have been identified in people with osteopetrosis. Mutations in this gene can cause several different forms of the disorder: autosomal recessive osteopetrosis (ARO), which is the most severe form; autosomal dominant osteopetrosis (ADO), which tends to be milder; and a moderate form known as intermediate autosomal osteopetrosis (IAO).

Mutations in the CLCN7 gene impair the function of ClC-7 channels. The defective channels cannot transport chloride ions effectively, which disrupts the regulation of pH in osteoclasts. As a result, osteoclasts are unable to break down bone normally. When old bone is not broken down as new bone is formed, bones throughout the skeleton become unusually dense. The bones are also structurally abnormal, making them prone to fracture. These problems with bone remodeling underlie all of the major forms of osteopetrosis.

Where is the CLCN7 gene located?

Cytogenetic Location: 16p13

Molecular Location on chromosome 16: base pairs 1,444,932 to 1,475,083

The CLCN7 gene is located on the short (p) arm of chromosome 16 at position 13.

The CLCN7 gene is located on the short (p) arm of chromosome 16 at position 13.

More precisely, the CLCN7 gene is located from base pair 1,444,932 to base pair 1,475,083 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CLCN7?

You and your healthcare professional may find the following resources about CLCN7 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 CLCN7 gene or gene products?

  • chloride channel 7
  • chloride channel protein 7
  • CLC7
  • CLC-7
  • CLCN7_HUMAN
  • FLJ26686
  • FLJ39644
  • FLJ46423
  • H(+)/Cl(-) exchange transporter 7
  • OPTA2
  • OPTB4
  • PPP1R63

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 CLCN7?

acidity ; atom ; autosomal ; autosomal dominant ; autosomal recessive ; bone remodeling ; cell ; channel ; chloride ; chloride channels ; gene ; ions ; pH ; protein ; proton ; recessive ; tissue ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 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.

 
Reviewed: September 2010
Published: December 22, 2014