| Entrez gene ID | | 2006 |
|
| Official gene symbol | | ELN |
|
| Full name | | elastin |
|
| Aliases | | ,FLJ38671,FLJ43523,SVAS,WBS,WS, |
|
| 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 dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
|
| Location | | Chromosome: 7 Locus: 7q11.23 |
|
| Gene position | | 73442427 - 73484237 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 41811 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 130160 |
|
|
|
