Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
ELN

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.

Read more about gene names and symbols on the About page.

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? 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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 ; muscle cells ; protein ; stenosis ; stress ; syndrome ; tissue

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

See also Understanding Medical Terminology.

References (15 links)

 

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: May 2012
Published: December 16, 2014