Elastin (gene)

The main structural protein in elastic tissues of the body such as intestines, large blood vessels (arteries), ligaments, lungs, and tendons.  It functions together with collagen in connective tissue: collagen supplies rigidity, whereas elastin allows the tissues to stretch and recoil to their original positions.  Once elastin is no longer produced soon after puberty, the ageing process begins.  The gene for making elastin was identified as being on chromosome 7, and is missing (a micro deletion) in individuals with Williams syndrome on one these chromosomes.  These individuals have problems with organs requiring elasticity such as arteries, intestines and joints.  The discovery that the elastin gene is deleted on one of the number 7 chromosomes was made by Colleen Morris and co-workers in 1993. 

See Aortic hypoplasia, Collagen, Limkinase I gene, Proteins, Structural protein, Supraalvular aortic stenosis (SVAS), Williams syndrome