Aliases for ELN Gene
External Ids for ELN Gene
Previous GeneCards Identifiers for ELN Gene
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. [provided by RefSeq, Aug 2017]
GeneCards Summary for ELN Gene
ELN (Elastin) is a Protein Coding gene. Diseases associated with ELN include Supravalvular Aortic Stenosis and Cutis Laxa, Autosomal Dominant 1. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity.
UniProtKB/Swiss-Prot Summary for ELN Gene
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 (By similarity).