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CLCN5

CLCN5

Reviewed September 2012

What is the official name of the CLCN5 gene?

The official name of this gene is “chloride channel, voltage-sensitive 5.”

CLCN5 is the gene's official symbol. The CLCN5 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 CLCN5 gene?

The CLCN5 gene provides instructions for making a protein called ClC-5 that transports charged atoms (ions) across cell membranes. Specifically, ClC-5 exchanges negatively charged atoms of chlorine (chloride ions) for positively charged atoms of hydrogen (protons or hydrogen ions). Based on this function, ClC-5 is known as a H+/Cl- exchanger.

ClC-5 is found primarily in the kidneys, particularly in structures called proximal tubules. These structures help to reabsorb nutrients, water, and other materials that have been filtered from the bloodstream. The kidneys reabsorb needed materials into the blood and excrete everything else into the urine.

Within proximal tubule cells, ClC-5 is embedded in specialized compartments called endosomes. Endosomes are formed at the cell surface to carry proteins and other molecules to their destinations within the cell. ClC-5 transports hydrogen ions into endosomes and chloride ions out, which helps these compartments maintain the proper acidity level (pH). Endosomal pH levels must be tightly regulated for proximal tubule cells to function properly.

Does the CLCN5 gene share characteristics with other genes?

The CLCN5 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 CLCN5 gene related to health conditions?

Dent disease - caused by mutations in the CLCN5 gene

About 150 mutations in the CLCN5 gene have been found to cause Dent disease 1, a chronic kidney disorder that can cause kidney failure. Most of the mutations lead to the production of an abnormally short, nonfunctional version of ClC-5 or prevent cells from producing any of this protein. A loss of ClC-5 alters the regulation of endosomal pH, which disrupts the overall function of proximal tubule cells and prevents them from reabsorbing proteins and other materials into the bloodstream. As a result, proteins are lost through the urine (tubular proteinuria). A failure to reabsorb calcium and other nutrients into the bloodstream can cause bone defects, kidney stones, and related health problems in people with Dent disease 1. Abnormal proximal tubule function ultimately leads to kidney failure in most affected individuals.

Genetics Home Reference provides information about hereditary hypophosphatemic rickets, which is also associated with changes in the CLCN5 gene.

Where is the CLCN5 gene located?

Cytogenetic Location: Xp11.23-p11.22

Molecular Location on the X chromosome: base pairs 49,922,614 to 50,099,234

The CLCN5 gene is located on the short (p) arm of the X chromosome between positions 11.23 and 11.22.

The CLCN5 gene is located on the short (p) arm of the X chromosome between positions 11.23 and 11.22.

More precisely, the CLCN5 gene is located from base pair 49,922,614 to base pair 50,099,234 on the X chromosome.

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

Where can I find additional information about CLCN5?

You and your healthcare professional may find the following resources about CLCN5 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 CLCN5 gene or gene products?

  • chloride channel 5
  • chloride channel protein 5
  • chloride transporter ClC-5
  • CLC5
  • clC-5
  • CLCK2
  • CLCN5_HUMAN
  • DENTS
  • hCIC-K2
  • hClC-K2
  • H(+)/Cl(-) exchange transporter 5
  • NPHL1
  • NPHL2
  • XLRH
  • XRN

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 CLCN5?

acidity ; calcium ; cell ; channel ; chloride ; chronic ; endosomes ; excrete ; gene ; hereditary ; hydrogen ions ; intracellular ; ions ; kidney ; kidney stones ; pH ; protein ; proteinuria ; proximal ; rickets ; 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 2012
Published: November 24, 2014