EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2)

EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2), also known as fibulin-4, is a member of the fibulin family of extracellular matrix proteins. EFEMP2 is essential for the assembly of elastic fibers, providing a scaffold that coordinates cross-linking of elastin by interacting with tropoelastin, lysyl oxidase, and fibrillin-1. It is critical for connective tissue integrity, especially in tissues rich in elastic fibers such as blood vessels, lungs, and skin. Loss-of-function mutations in EFEMP2 result in autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose skin, pulmonary emphysema, and severe cardiovascular defects, including aortic aneurysm. Its functions extend to collagen maturation and regulation of smooth muscle cell differentiation, underscoring its central role in extracellular matrix formation and vascular stability[1][2][3][4].

Other names

Fibulin-4FBLN4UPH1MBP1ARCL1BMutant p53 binding protein 1Fibulin 4