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<span>NIPBL gene</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/gene/nipbl/</span>
<div >
<article>
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<a name="start" id="start"></a>
<h1 class="with-also">NIPBL gene</h1>
<span class="alsocalled">NIPBL cohesin loading factor</span>
</div>
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<h2>Normal Function</h2>
<section><div class="mp-content"><p>The <em>NIPBL</em> gene provides instructions for making a protein called delangin, which plays an important role in human development. Delangin helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The sister chromatids are attached to one another during the early stages of cell division by a group of proteins known as the cohesin complex. Delangin plays a critical role in the regulation of this complex. Specifically, it controls the interaction between the cohesion complex and the DNA that makes up the sister chromatids.</p><p>Researchers believe that delangin, as a regulator of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.</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>Cornelia de Lange syndrome</h3>
<p>Variants (also called mutations) in the <em>NIPBL</em> gene have been found in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Variants in this gene are the most common known cause of Cornelia de Lange syndrome, accounting for more than half of all cases.</p><p>Many different kinds of <em>NIPBL</em> gene variants have been reported; most lead to the production of an abnormally short (truncated), nonfunctional version of the delangin protein from one copy of the gene in each cell. These variants reduce the overall amount of delangin produced in cells, which likely alters the activity of the cohesin complex and impairs its ability to regulate genes that are critical for normal development. Although researchers do not fully understand how these changes cause Cornelia de Lange syndrome, they suspect that altered gene regulation probably underlies many of the developmental problems characteristic of the condition. Studies suggest that variants leading to a nonfunctional version of delangin tend to cause more severe signs and symptoms than variants that result in a partially functional version of the protein.</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/">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>CDLS</li> <li>IDN3</li> <li>IDN3-B</li> <li>NIPBL_HUMAN</li> <li>Nipped-B homolog (Drosophila)</li> <li>Nipped-B-like</li> <li>Scc2</li>
</ul>
</section>
</div>
<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=25836[geneid]" target="TheNewWin">Tests of NIPBL</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>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28NIPBL%5BTI%5D%29+OR+%28delangin%5BTIAB%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>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/608667" target="TheNewWin">NIPPED-B-LIKE; NIPBL</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/25836" 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=NIPBL[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>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter
NP, Munnich A, Colleaux L, Cormier-Daire V. NIPBL mutations and genetic
heterogeneity in Cornelia de Lange syndrome. J Med Genet. 2004 Dec;41(12):e128.
doi: 10.1136/jmg.2004.026666. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/15591270" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735640/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH,
Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Copy number analysis of NIPBL in
a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov
14. <a href="https://pubmed.ncbi.nlm.nih.gov/24689074" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960053/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16
[updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE,
Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University
of Washington, Seattle; 1993-2025. Available from
http://www.ncbi.nlm.nih.gov/books/NBK1104/
<a href="https://pubmed.ncbi.nlm.nih.gov/20301283" target="TheNewWin">Citation on PubMed</a></li>
<li>Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li
HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals
with Cornelia de Lange syndrome and evaluation of genotype-phenotype
correlations. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub
2004 Aug 18. <a href="https://pubmed.ncbi.nlm.nih.gov/15318302" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182048/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L,
Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC,
Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of
Drosophila melanogaster Nipped-B. Nat Genet. 2004 Jun;36(6):631-5. doi:
10.1038/ng1364. Epub 2004 May 16. <a href="https://pubmed.ncbi.nlm.nih.gov/15146186" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902017/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mutation spectrum and
genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat. 2013
Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16. <a href="https://pubmed.ncbi.nlm.nih.gov/24038889" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880228/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG,
Krantz ID, Deardorff MA, Lupski JR. NIPBL rearrangements in Cornelia de Lange
syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Genet Med. 2012 Mar;14(3):313-22. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5. <a href="https://pubmed.ncbi.nlm.nih.gov/22241092" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556738/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog
of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is
mutated in Cornelia de Lange syndrome. Nat Genet. 2004 Jun;36(6):636-41. doi:
10.1038/ng1363. Epub 2004 May 16. <a href="https://pubmed.ncbi.nlm.nih.gov/15146185" 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>NIPBL</em> gene is found on <a data-pid="20039" href="https://medlineplus.gov/genetics/chromosome/5/">chromosome 5</a>.</span></div></div>
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