| ELN |
| LOCUS ID | 2006 | ||||||||||
| GENE_SYMBOL | ELN | ||||||||||
| GENE NAME | elastin | ||||||||||
| SYNONYMNS | WS, WBS, SVAS | ||||||||||
| CHROMOSOME | 7 | ||||||||||
| HOMOLOGENE ID | 0 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal domint cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Atherosclerosis | 1. The blood levels of elastin peptides are usually low but can increase during cardiovascular diseases, such as atherosclerosis, aortic aneurysm and diabetes with vascular complications. | 25794852 |