Gene: ELN

Alternate names for this Gene: ADCL1|SVAS|WBS|WS

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: elastin

Type of Gene: protein-coding

rs794729201 in ELN gene and Cutis Laxa, Autosomal Dominant PMID 9215671 1997 Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

PMID 21309044 2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

PMID 18348261 2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

rs3823878 in ELN gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs1554680190 in ELN gene and Dysmorphic features PMID 15955094 2005 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

PMID 10942104 2000 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 27866049 2017 Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

PMID 19194475 2009 An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.

PMID 8132745 1994 Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

PMID 21309044 2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

PMID 23442826 2013 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

PMID 18348261 2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

rs1554680190 in ELN gene and Muscle hypotonia PMID 27866049 2017 Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

PMID 15955094 2005 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

PMID 8132745 1994 Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

PMID 10942104 2000 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

PMID 19194475 2009 An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.

PMID 23442826 2013 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

PMID 21309044 2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 18348261 2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

rs137854452 in ELN gene and Supravalvular aortic stenosis PMID 9215670 1997 Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 10190324 1999 Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.

PMID 17037986 2007 Domains 16 and 17 of tropoelastin in elastic fibre formation.

PMID 22740173 2012 Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema.