Disease-gene associations mined from literature

Literature associating FBLN5 and autosomal recessive cutis laxa type IIA

FBLN5 [ENSP00000345008]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM