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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed September 2015

What is the official name of the NIPBL gene?

The official name of this gene is “Nipped-B homolog (Drosophila).”

NIPBL is the gene's official symbol. The NIPBL gene is also known by other names, listed below.

What is the normal function of the NIPBL gene?

The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Before birth, delangin is found in the developing arms and legs, the bones of the skull and face, the spinal column, the heart, and other parts of the body.

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.

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.

How are changes in the NIPBL gene related to health conditions?

Cornelia de Lange syndrome - caused by mutations in the NIPBL gene

More than 300 mutations in the NIPBL gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Mutations in this gene are the most common known cause of Cornelia de Lange syndrome, accounting for more than half of all cases.

Many different kinds of NIPBL gene mutations 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 mutations 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 mutations leading to a nonfunctional version of delangin tend to cause more severe signs and symptoms than mutations that result in a partially functional version of the protein.

Where is the NIPBL gene located?

Cytogenetic Location: 5p13.2

Molecular Location on chromosome 5: base pairs 36,876,759 to 37,065,819

The NIPBL gene is located on the short (p) arm of chromosome 5 at position 13.2.

The NIPBL gene is located on the short (p) arm of chromosome 5 at position 13.2.

More precisely, the NIPBL gene is located from base pair 36,876,759 to base pair 37,065,819 on chromosome 5.

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

Where can I find additional information about NIPBL?

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

  • CDLS
  • IDN3
  • IDN3-B
  • Nipped-B-like
  • Scc2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding NIPBL?

cell ; cell division ; chromatid ; chromosome ; cohesion ; DNA ; gene ; gene regulation ; haploinsufficiency ; protein ; sister chromatid ; sister chromatid cohesion ; syndrome

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


  • 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. (
  • 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. (
  • Gene Review: Cornelia de Lange Syndrome (
  • 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. Epub 2004 Aug 18. (
  • 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. Epub 2004 May 16. (
  • 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. Review. (
  • NCBI Gene (
  • 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. (
  • 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. Epub 2004 May 16. (


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 2015
Published: November 23, 2015