FBLN5 (Entrez ID: 10516)

Entrez Gene ID 10516
Official Gene Symbol FBLN5 (GeneCards)
Full name fibulin 5
Location 14q32.12
Other ids Vega : OTTHUMG00000171122
MIM : 604580
HGNC : HGNC:3602
Ensembl : ENSG00000140092
Other names EVEC, UP50, ADCL2, ARMD3, DANCE, ARCL1A, FIBL-5, HNARMD
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). [provided by RefSeq, Jul 2008]

Variants

Found 2 variants in this database.