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Genetics Home Reference: your guide to understanding genetic conditions
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ELN

Reviewed May 2012

What is the official name of the ELN gene?

The official name of this gene is “elastin.”

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

What is the normal function of the ELN gene?

The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Elastic fibers are found in the intricate lattice that forms in the spaces between cells (the extracellular matrix), where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels.

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

cutis laxa - caused by mutations in the ELN gene

Several mutations in the ELN gene have been identified in people with a skin disorder called cutis laxa. ELN gene mutations cause a form of the disorder called autosomal dominant cutis laxa, which is characterized by loose, sagging skin; an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta; and a lung disease called emphysema, which can make it difficult to breathe.

The ELN mutations that cause autosomal dominant cutis laxa lead to the production of an abnormally long version of the tropoelastin protein. The abnormal protein likely interferes with the formation of mature elastin and the assembly of elastic fibers, which weakens connective tissue in the skin and blood vessels. This defect in connective tissue underlies the major features of cutis laxa.

supravalvular aortic stenosis - caused by mutations in the ELN gene

At least 60 mutations in the ELN gene have been found to cause supravalvular aortic stenosis (SVAS), a heart defect present from birth that is characterized by a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). Most of the ELN gene mutations that cause SVAS lead to a decrease in the production of tropoelastin. A shortage of tropoelastin reduces the amount of mature elastin protein that is processed and available for forming elastic fibers. As a result, elastic fibers that make up the aorta are thinner than normal. To compensate, the smooth muscle cells that line the aorta increase in number, making the aorta thicker and narrower than usual. A thickened aorta is less flexible and resilient to the stress of constant blood flow and pumping of the heart. Over time, the wall of the aorta can become damaged. Aortic narrowing causes the heart to work harder to pump blood through the aorta, which can lead to shortness of breath, chest pain, and ultimately heart failure.

Williams syndrome - associated with the ELN gene

The ELN gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with Williams syndrome are missing one copy of the ELN gene in each cell. This loss reduces the production of elastin by half, which disrupts the normal structure of elastic fibers in many connective tissues. Large blood vessels with abnormal elastic fibers are often thicker and less resilient than normal. These vessels can narrow, increasing the resistance to normal blood flow and leading to serious medical problems.

In people with Williams syndrome, a loss of the ELN gene is associated with connective tissue abnormalities, such a joint problems and loose skin, and cardiovascular disease, particularly SVAS.

Where is the ELN gene located?

Cytogenetic Location: 7q11.23

Molecular Location on chromosome 7: base pairs 74,027,788 to 74,069,906

The ELN gene is located on the long (q) arm of chromosome 7 at position 11.23.

The ELN gene is located on the long (q) arm of chromosome 7 at position 11.23.

More precisely, the ELN gene is located from base pair 74,027,788 to base pair 74,069,906 on chromosome 7.

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 ELN?

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

  • elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
  • ELN_HUMAN
  • tropoelastin

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 ELN?

aneurysm ; aorta ; arteriopathy ; autosomal ; autosomal dominant ; cardiovascular ; cell ; chromosome ; connective tissue ; deletion ; elastic ; emphysema ; extracellular ; extracellular matrix ; gene ; heart failure ; joint ; protein ; stenosis ; stress ; syndrome ; tissue

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

References

  • Brooke BS, Bayes-Genis A, Li DY. New insights into elastin and vascular disease. Trends Cardiovasc Med. 2003 Jul;13(5):176-81. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12837579?dopt=Abstract)
  • Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/21309044?dopt=Abstract)
  • Gene Review: Williams Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1249/)
  • Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008 Apr 15;146A(8):977-83. doi: 10.1002/ajmg.a.32242. (http://www.ncbi.nlm.nih.gov/pubmed/18348261?dopt=Abstract)
  • Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000 Dec;8(12):955-63. (http://www.ncbi.nlm.nih.gov/pubmed/11175284?dopt=Abstract)
  • Milewicz DM, Urbán Z, Boyd C. Genetic disorders of the elastic fiber system. Matrix Biol. 2000 Nov;19(6):471-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11068201?dopt=Abstract)
  • Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-84. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11701637?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2006)
  • Park S, Seo EJ, Yoo HW, Kim Y. Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. Int J Mol Med. 2006 Aug;18(2):329-32. (http://www.ncbi.nlm.nih.gov/pubmed/16820942?dopt=Abstract)
  • Rodriguez-Revenga L, Badenas C, Carrió A, Milà M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. (http://www.ncbi.nlm.nih.gov/pubmed/15990952?dopt=Abstract)
  • Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrió A, Milà M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol. 2004 Sep;140(9):1135-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15381555?dopt=Abstract)
  • Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006 Mar;43(3):255-8. Epub 2005 Aug 5. (http://www.ncbi.nlm.nih.gov/pubmed/16085695?dopt=Abstract)
  • Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. Epub 2003 Sep 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12952863?dopt=Abstract)
  • Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002 Jul;71(1):30-44. Epub 2002 May 6. (http://www.ncbi.nlm.nih.gov/pubmed/12016585?dopt=Abstract)
  • Urbán Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD, Wallace MR. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet. 2001 Nov;109(5):512-20. Epub 2001 Oct 13. (http://www.ncbi.nlm.nih.gov/pubmed/11735026?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: May 2012
Published: April 17, 2014