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Related to FBLN5: cutis laxa
FBLN5A gene on chromosome 14q32.1 that encodes a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains, which promotes adhesion of endothelial cells by interaction of integrins and the RGD motif. The FBLN5 protein produced is expressed in intimal vascular smooth muscle cells and endothelial cells during vascular development, and in remodeling during atherosclerosis and after balloon-catheter-induced injury.
FBLN5 mutations cause cutis laxa type I and age-related macular degeneration type 3.