EMILIN1 Rabbit anti-Human, Polyclonal, Proteintech

Description

This gene encodes a protein that is one of the two components of elastic fibers. 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. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal domit cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene.