ELN gene

The ELN gene provides instructions for producing elastin, a critical protein that gives connective tissues throughout the body their resilience and flexibility.

Normal Function

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 a major component of the tissue that supports the body's joints and organs (connective tissue). Elastic fibers are found in the intricate lattice that forms in the spaces between cells (the extracellular matrix). They can be stretched and then snap back into place, which is how they provide resilience and flexibility to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels.

Health Conditions Related to Genetic Changes

Cutis laxa

At least 18 variants in the ELN gene have been identified in people with a skin disorder called cutis laxa. ELN gene variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), 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.

The ELN gene variants that cause ADCL1 lead to the production of an abnormal version of the tropoelastin protein. The abnormal protein is less able to be incorporated into mature elastin, which impairs the formation of strong elastic fibers. This defect weakens connective tissue in the skin and blood vessels.

Supravalvular aortic stenosis

More than 70 variants in the ELN gene have been found to cause supravalvular aortic stenosis (SVAS), a blood vessel defect characterized by a narrowing of the aorta. Most of these variants lead to a decrease in the production of tropoelastin. A shortage of tropoelastin reduces the amount of mature elastin available for forming elastic fibers. As a result, elastic fibers in the aorta are thinner than normal, leading the aorta to become thicker, narrower, and less flexible.

7q11.23 duplication syndrome

The ELN gene is located in a region of chromosome 7 that is duplicated in people with 7q11.23 duplication syndrome. People with this condition have an extra copy of the ELN gene, which may lead to the production of a greater than normal amount of tropoelastin. This excess is suggested to be related to an increased risk for aortic dilatation (enlargement).

Williams syndrome

The ELN gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result, these individuals are missing one copy of the ELN gene, reducing elastin production by approximately half. This disrupts the structure of elastic fibers, often causing large blood vessels like the aorta to be thicker and less resilient than normal.

Other Names for This Gene

• elastin
• ELN_HUMAN
• tropoelastin

Genomic Location

The ELN gene is found on chromosome 7.