| Symbol
| ELN
| contributors: mct - updated : 22-09-2017
|
| HGNC name
| elastin
|
| HGNC id
| 3327
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
| deletion
|
|
| |
contributing to increased proliferation of fetal aortic smooth muscle cells and arterial stenoses (in WBS or SVAS) | | tumoral
| fusion
|
|
|
| |
fused with PAX5 by t(7;9)(q11;p13) translocation in B-cell acute lymphoblastic leukemia (B-ALL) (Bousquet 2007) | | constitutional
|
|
| --over
|
|
enhanced alveolar elastin expression in very severe in chronic obstructive pulmonary disease  | | constitutional
|
|
|
| loss of function
| |
causes vascular stiffening, a leading risk for hypertension and chronic kidney disease (CKD) | | constitutional
|
|
|
| loss of function
| |
causes augmented AGT -induced vasoconstriction in part through a novel mechanism that facilitates contraction evoked by AGTR2 and altered G protein signaling | |
| Susceptibility
|
to intracranial aneurysm (IA) to neovascular age-related macular degeneration (AMD) |
| Variant & Polymorphism
SNP
| 3'-UTR G(+659)C SNP has the strongest association to intracranial aneurysm |
|
ELN variant INT20 1315T > C is implicated in the development of IA |
|
significant association was detected between the rs2301995 SNP and AMD |
| 
|
Candidate gene
Marker
| Therapy target
| FBLN5 and ELN are potential targets for the regeneration of elastic fibers | |
| | |
|
| murine Eln(-)(/)(-) aorta has a smaller unloaded diameter and thicker wall because of smooth muscle cell overproliferation and has greatly reduced compliance |