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Genetics Home Reference: your guide to understanding genetic conditions
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NIPBL

Reviewed February 2010

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 that plays an important role in human development. Before birth, delangin is found in the developing limbs, the bones of the skull and face, the spinal column, the heart, and other parts of the body.

One of the functions of delangin is to help 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 cohesion complex. Delangin controls the interaction between the cohesion complex and the DNA that makes up the sister chromatids.

Additionally, delangin regulates the activity of certain genes that are critical for normal development, particularly genes that coordinate the development of tissues that will become the limbs and face. Studies suggest that delangin is also involved in the repair of damaged DNA.

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

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

More than 100 mutations in the NIPBL gene have been identified in people with Cornelia de Lange syndrome. Most of these mutations lead to the production of an abnormally small, nonfunctional version of the delangin protein. Other mutations impair the function of delangin by changing single protein building blocks (amino acids) in critical regions of the protein. When delangin is altered or missing, it can no longer properly regulate genes involved in development. These changes in gene regulation are likely responsible for the developmental problems characteristic of Cornelia de Lange syndrome. Studies suggest that mutations leading to a nonfunctional version of delangin tend to cause more severe signs and symptoms than mutations that change a single amino acid in the protein.

Where is the NIPBL gene located?

Cytogenetic Location: 5p13.2

Molecular Location on chromosome 5: base pairs 36,876,758 to 37,065,823

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 36,876,758 to base pair 37,065,823 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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
  • NIPBL_HUMAN
  • Nipped-B-like
  • Scc2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NIPBL?

acids ; amino acid ; cell ; cell division ; chromatid ; chromosome ; cohesion ; DNA ; gene ; gene regulation ; protein ; sister chromatid ; sister chromatid cohesion ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15591270?dopt=Abstract)
  • Dorsett D, Krantz ID. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 2009 Jan;1151:22-37. doi: 10.1111/j.1749-6632.2008.03450.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19154515?dopt=Abstract)
  • Gene Review: Cornelia de Lange Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1104)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15318302?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15146186?dopt=Abstract)
  • Liu J, Krantz ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 2009 Oct;76(4):303-14. doi: 10.1111/j.1399-0004.2009.01271.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19793304?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/25836)
  • Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet. 2007 Aug;72(2):98-108. (http://www.ncbi.nlm.nih.gov/pubmed/17661813?dopt=Abstract)
  • Strachan T. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev. 2005 Jun;15(3):258-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15917200?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15146185?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2010
Published: March 2, 2015