Recombinant Human Elastin (ELN)

Uniprot Id

P15502

Target Species

Human

Target Name

ELN

Target Full Name

Elastin

Target Function

Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle.

Target Involvement

Cutis laxa, autosomal dominant, 1 (ADCL1); Supravalvular aortic stenosis (SVAS)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Elastin family

Target Tissue Specificity

Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin.

Target Research Area

Cardiovascular

Target Synonyms

Elastin; ELN; ELN_HUMAN; SVAS ; Tropoelastin; WBS; WS

Target Background

This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa.