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FLASH GENE

Symbol

FBLN5

contributors: mct/shn - updated : 31-03-2015

HGNC name	fibulin 5
HGNC id	3602

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CLAR1A , ARMD3 , PNES , ADCL2

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

ANIMAL & CELL MODELS

	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