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Symbol FBLN5 contributors: mct/shn - updated : 31-03-2015
HGNC name fibulin 5
HGNC id 3602
corresponding disease(s) CLAR1A , ARMD3 , PNES , ADCL2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
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