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

Gene: ELN-AS1

Alternate names for this Gene:

Gene Summary:

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rs17855988 in ELN;ELN-AS1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs727503783 in ELN;ELN-AS1 gene and Supravalvular aortic stenosis PMID 9215671 1997 Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.