Immunohistochemical staining of paraffin-embedded human skin section. Using ELN polyclonal antibody (Cat # PAB13513) in combination with anti-rabbit IgG. HRPO and DAB, counter stained with Haemalaun. Note brown staining of ELN network of the dermis.
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 dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq