Aliases for ELN Gene
External Ids for ELN Gene
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, Jul 2008]
GeneCards Summary for ELN Gene
ELN (Elastin) is a Protein Coding gene. Diseases associated with ELN include elastosis perforans serpiginosa and hepatoportal sclerosis. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity.
UniProtKB/Swiss-Prot 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).