Gene ELN
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Also known as
WBS, WS, SVAS, tropoelastin, elastinOverview
ELN (Elastin) encodes the major protein component of elastic fibers, which provide elasticity and resilience to tissues including blood vessels, lungs, and skin. Elastin is essential for the proper function of the cardiovascular system, allowing arteries to expand and recoil with each heartbeat.Mutations in ELN cause supravalvular aortic stenosis (SVAS), a progressive narrowing of the aorta above the heart valve. ELN is also deleted in Williams syndrome, a multisystem disorder causing cardiovascular problems, distinctive facial features, intellectual disability, and an unusually social personality. Common variants in ELN influence skin aging, wrinkle formation, and arterial stiffness.
Understanding your ELN genetic status is relevant for cardiovascular health assessment and understanding skin elasticity. Variants affecting elastin function may influence arterial stiffness and skin aging, with potential implications for anti-aging skincare strategies and cardiovascular risk.