Eln - elastin

Enables extracellular matrix constituent conferring elasticity. Involved in several processes, including cellular response to L-ascorbic acid; cellular response to growth factor stimulus; and cellular response to lipid. Located in extracellular matrix and extracellular space. Used to study abdominal aortic aneurysm. Biomarker of autosomal recessive polycystic kidney disease; bladder neck obstruction; congenital diaphragmatic hernia; liver cirrhosis; and silicosis. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin). [provided by Alliance of Genome Resources, Apr 2022]