ELN

Description

The ELN gene provides instructions for making elastin, a protein that gives tissues the ability to stretch and recoil. It‘s crucial for the elasticity and proper function of various organs and structures, including blood vessels, skin, lungs, and ligaments. Mutations in the ELN gene can disrupt elastin production, leading to a range of health issues.

Associated Diseases

• Williams-Beuren syndrome
• Supravalvular aortic stenosis (SVAS)
• Elastinopathies
• Cutis laxa
• Granuloma annulare

Did you know?

Elastin is the most abundant protein in the aorta, the main artery carrying blood from the heart.