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.
Other Names
elastin; ELN_HUMAN; tropoelastin
Related Genetics Topics
- Williams syndrome — MedlinePlus Genetics
- Cutis laxa — MedlinePlus Genetics
- Supravalvular aortic stenosis — MedlinePlus Genetics
- 7q11.23 duplication syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 2006
- OMIM: 130160
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
