Also known as
Fibulin-5, EVEC, DANCE, UP50
Overview
FBLN5 (Fibulin-5) is a gene that encodes an extracellular matrix protein essential for elastic fiber assembly and stability. Fibulin-5 is a calcium-binding protein that promotes the organization of elastic fibers by interacting with elastin and other matrix components. It plays a critical role in the development and maintenance of elastic tissues including blood vessels, skin, and lungs. The protein is particularly important for vascular integrity and preventing age-related arterial stiffening. Mutations in FBLN5 can cause cutis laxa, a rare connective tissue disorder characterized by loose, sagging skin and systemic manifestations including arterial abnormalities, emphysema, and hernias. Variants in this gene may also influence skin aging, wrinkle formation, and vascular health. Understanding FBLN5 function is relevant for skincare, cardiovascular health, and the maintenance of tissue elasticity throughout aging.
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