| Symbol
| FBLN5
| contributors: mct/shn - updated : 31-03-2015
|
| HGNC name
| fibulin 5
|
| HGNC id
| 3602
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
in disease affecting adult arterial vasculature | | tumoral
|
|
| --low
|
| |
in cancers of the kidney, breast, ovary, and colon, metastatic | | constitutional
|
|
| --low
|
|
in patients with primary spontaneous pneumothorax (PSP who are younger than 25 years  | |
| Susceptibility
|
to age-related macular degeneration and cause autosomal-recessive cutis laxa |
| Variant & Polymorphism
other
| missense variations increasing the risk of age-related macular degeneration |
| 
|
Candidate gene
Marker
| Therapy target
| could be a novel therapeutic target for elastic fiber regeneration | |
FBLN5 and ELN are potential targets for the regeneration of elastic fibers | |
| | |
|
| fibulin 5 -/- mice develop marked elastinopathy owing to the disorganization of elastic fibres, with resulting loose skin, vascular abnormalities and emphysematous lung | |
fibulin 5-/- mice survive to adulthood, but have a tortuous aorta with loss of compliance, severe emphysema, and loose skin |
|
Fbln5-/- mice represent a suitable model for further studies to determine mechanistic relationships between arterial compliance and left ventricular (LV) diastolic function |