Identity
HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
ADCL1,SVAS,WBS,WS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2006
MIM: 130160
HGNC: 3327
Ensembl: ENSG00000049540
Variants:
dbSNP: 2006
ClinVar: 2006
TCGA: ENSG00000049540
COSMIC: ELN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38294523 | 2024 | Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation. | 0 |
| 38353503 | 2024 | Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells. | 0 |
| 38442161 | 2024 | Elastin recoil is driven by the hydrophobic effect. | 0 |
| 38508328 | 2024 | TGF-α/EGFR signaling promotes lipopolysaccharide-induced abnormal elastin deposition and alveolar simplification. | 0 |
| 38810421 | 2024 | A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression. | 0 |
| 38294523 | 2024 | Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation. | 0 |
| 38353503 | 2024 | Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells. | 0 |
| 38442161 | 2024 | Elastin recoil is driven by the hydrophobic effect. | 0 |
| 38508328 | 2024 | TGF-α/EGFR signaling promotes lipopolysaccharide-induced abnormal elastin deposition and alveolar simplification. | 0 |
| 38810421 | 2024 | A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression. | 0 |
| 36541930 | 2023 | Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene. | 2 |
| 36979509 | 2023 | Mechanical Properties and Functions of Elastin: An Overview. | 9 |
| 37140249 | 2023 | Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease? | 1 |
| 37208491 | 2023 | Configuration of elastin fibers in the intra- and extra-capsule ligaments of the elderly cricoarytenoid joint. | 0 |
| 37479718 | 2023 | Elastin stabilization prevents impaired biomechanics in human pulmonary arteries and pulmonary hypertension in rats with left heart disease. | 2 |
Citation
Dessen P
ELN (elastin)
Atlas Genet Cytogenet Oncol Haematol. 2005-11-01
Online version: http://atlasgeneticsoncology.org/gene/43052/eln-(elastin)
