DefinitionThis section has been translated automatically.
The elastin gene (ELN gene) is a gene located on chromosome 7q11.23. The protein encoded by the elastin gene is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by cross-links between lysine residues.
Several transcript variants were found for the elastin gene, which encode different elastin isoforms. These tissue-specific variants of elastin are produced by alternative splicing of the tropoelastin gene. At least 11 human tropoelastin isoforms are known, the soluble precursor of elastin is tropoelastin.
Clinical pictureThis section has been translated automatically.
Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa (ADCL).
Other associated defects of elastin include Marfan syndrome, emphysema caused by α1 antitrypsin deficiency, atherosclerosis, Buschke-Ollendorff syndrome, Menkes syndrome, Pseudoxanthoma elasticum and Williams syndrome.
LiteratureThis section has been translated automatically.
- Boeckel T et al. (1999) A new mutation in the elastin gene causing supravalvular aortic stenosis.am. J. Cardiol. 83: 1141-1143
- Corbett E et al (1994) Congenital cutis laxa with a dominant inheritance and early onset emphysema. Chest 49: 836-837
- Li J et al (2020) Elastin is a key factor of tumor development in colorectal cancer. BMC Cancer 20:217.