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<span>CCN6 gene</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/gene/ccn6/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1 class="with-also">CCN6 gene</h1>
<span class="alsocalled">cellular communication network factor 6</span>
</div>
<div class="page-actions"></div>
<noscript><span class="js-disabled-message">To use the sharing features on this page, please enable JavaScript.</span></noscript>
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<div class="mp-exp exp-full" data-bookmark="function">
<h2>Normal Function</h2>
<section><div class="mp-content"><p>The <i>CCN6</i> gene provides instructions for making a protein that appears to be involved in bone growth and the maintenance of cartilage, which covers and protects the ends of bones. The function of the CCN6 protein is not well understood. It is part of a family of proteins that are involved in the growth and maintenance of connective tissues, such as bone, cartilage, and blood vessels. The CCN6 protein is made in cells called chondrocytes, which produce and maintain cartilage, and is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. CCN6 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="conditions">
<h2>Health Conditions Related to Genetic Changes</h2>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Progressive pseudorheumatoid dysplasia</h3>
<p>Mutations in the <i>CCN6</i> gene cause progressive pseudorheumatoid dysplasia (PPRD), which is a condition that causes stiffness and pain in the joints of the hands, hips, knees, and spine. The joint problems worsen over time, and movement in the joints becomes limited. Most of the mutations involved in this condition lead to production of an abnormally short CCN6 protein that is probably nonfunctional. Other mutations change single protein building blocks (amino acids) in the protein. Loss of CCN6 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the joint problems in PPRD.</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia/">More About This Health Condition</a>
</div>
</section>
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<div class="mp-content mp-exp exp-full">
<h3>Juvenile idiopathic arthritis</h3>
<p>MedlinePlus Genetics provides information about Juvenile idiopathic arthritis</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/juvenile-idiopathic-arthritis/">More About This Health Condition</a>
</div>
</section>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Gene</h2>
<section>
<ul class="bulletlist">
<li>CCN family member 6</li> <li>LIBC</li> <li>PPAC</li> <li>PPD</li> <li>WISP-3</li> <li>WISP3</li> <li>WISP3_HUMAN</li> <li>WNT1 inducible signaling pathway protein 3</li> <li>WNT1-inducible-signaling pathway protein 3</li>
</ul>
</section>
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<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Tests Listed in the Genetic Testing Registry</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=8838[geneid]" target="TheNewWin">Tests of CCN6</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
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<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28WISP3%5BTIAB%5D%29+OR+%28WNT1+inducible+signaling+pathway+protein+3%5BTIAB%5D%29+OR+%28CCN6%29%29+OR+%28%28WNT1-inducible-signaling+pathway+protein+3%5BTIAB%5D%29+OR+%28WISP-3%5BTIAB%5D%29%29+AND+%28%28Genes%5BMH%5D%29+OR+%28Genetic+Phenomena%5BMH%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/603400" target="TheNewWin">CELLULAR COMMUNICATION NETWORK FACTOR 6; CCN6</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Gene and Variant Databases</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/8838" target="TheNewWin">NCBI Gene</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=CCN6[gene]" target="TheNewWin">ClinVar</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Baker N, Sharpe P, Culley K, Otero M, Bevan D, Newham P, Barker W, Clements
KM, Langham CJ, Goldring MB, Gavrilovic J. Dual regulation of metalloproteinase
expression in chondrocytes by Wnt-1-inducible signaling pathway protein 3/CCN6.
Arthritis Rheum. 2012 Jul;64(7):2289-99. doi: 10.1002/art.34411. <a href="https://pubmed.ncbi.nlm.nih.gov/22294415" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366172/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Davis L, Chen Y, Sen M. WISP-3 functions as a ligand and promotes superoxide
dismutase activity. Biochem Biophys Res Commun. 2006 Mar 31;342(1):259-65. doi:
10.1016/j.bbrc.2006.01.132. Epub 2006 Feb 3. <a href="https://pubmed.ncbi.nlm.nih.gov/16480948" target="TheNewWin">Citation on PubMed</a></li>
<li>Nakamura Y, Weidinger G, Liang JO, Aquilina-Beck A, Tamai K, Moon RT, Warman
ML. The CCN family member Wisp3, mutant in progressive pseudorheumatoid
dysplasia, modulates BMP and Wnt signaling. J Clin Invest. 2007
Oct;117(10):3075-86. doi: 10.1172/JCI32001. <a href="https://pubmed.ncbi.nlm.nih.gov/17823661" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1964511/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Sen M, Cheng YH, Goldring MB, Lotz MK, Carson DA. WISP3-dependent regulation
of type II collagen and aggrecan production in chondrocytes. Arthritis Rheum.
2004 Feb;50(2):488-97. doi: 10.1002/art.20005. <a href="https://pubmed.ncbi.nlm.nih.gov/14872491" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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<section><div class="side-section"><div class="mp-content"><div class="section-header"><h2>Genomic Location</h2></div><div class="section-body"><span>The <em>CCN6</em> gene is found on <a data-pid="20041" href="https://medlineplus.gov/genetics/chromosome/6/">chromosome 6</a>.</span></div></div>
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