Gene: FBLN5

Alternate names for this Gene: ADCL2|ARCL1A|ARMD3|DANCE|EVEC|FIBL-5|HNARMD|UP50

Gene Summary: The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3).

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.12

Description of this Gene: fibulin 5

Type of Gene: protein-coding

rs4904823 in FBLN5 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs149396611 in FBLN5 gene and Cutis Laxa, Autosomal Recessive, Type I PMID 20599547 2010 Biophysical characterisation of fibulin-5 proteins associated with disease.

PMID 16652333 2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 20007835 2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

PMID 12189163 2002 Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

PMID 18185537 2008 A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

PMID 16691202 2006 Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.

PMID 17035250 2006 Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.

rs149364745 in FBLN5 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs121434299 in FBLN5 gene and NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID 15269314 2004 Missense variations in the fibulin 5 gene and age-related macular degeneration.

PMID 16652333 2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 20599547 2010 Biophysical characterisation of fibulin-5 proteins associated with disease.

PMID 20007835 2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

PMID 21576112 2011 Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

PMID 23328402 2013 Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.