Literature associating FBLN5 and supravalvular aortic stenosis
Developmental arteries and neural crest EGF-like protein; Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN. Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling. May act as an adapter that mediates the interaction between FBN1 and ELN; Belongs to the fibulin family.
Synonyms: FBLN5, FBLN5p, hFBLN5, A0A024R6G3, G3V2P8 ...