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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?
Where is the ELN gene located?
Cytogenetic Location: 7q11.23
Molecular Location on chromosome 7: base pairs 73,442,118 to 73,484,236
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 73,442,118 to base pair 73,484,236 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?
See How are genetic conditions and genes named? in the Handbook.
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 ; 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.