Elastin

Alternative Names

  • ELN
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OMIM Number

130160

NCBI Gene ID

2006

Uniprot ID

P15502

Length

42,136 bases

No. of Exons

34

No. of isoforms

13

Protein Name

Elastin

Molecular Mass

68398 Da

Amino Acid Count

786

Genomic Location

chr7:74,027,772-74,069,907

Gene Map Locus
7q11.23

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000501.4:c.631C>TLebanonchr7:74046755PathogenicPathogenicCutis Laxa, Autosomal Recessive, Type IA NG_009261.1:g.23659C>T; NM_000501.4:c.631C>T; NP_000492.2:p.Pro211Ser1064793880419450
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