Elastin (ELN)

WBS, WS, SVAS; Tropoelastin; Supravalvular Aortic Stenosis; Williams-Beuren Syndrome

SPN	V495
HGNC	3327
MGI	95317
PubMed	15837523
RGD	67394
UniProt	P15502
Wiki	Elastin

Elastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing tissue in the bodies of mammals and used in places where mechanical energy is required to be stored.Elastin is primarily composed of the amino acids glycine, valine, alanine, and proline. It is a specialized protein with a molecular weight of 64 to 66 kDa, and an irregular or random coil conformation made up of 830 amino acids.Elastin is made by linking many soluble tropoelastin protein molecules, in a reaction catalyzed by lysyl oxidase, to make a massive insoluble, durable cross-linked array. The amino acid responsible for these cross-links is lysine.

Reference

"Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA."
Proc. Natl. Acad. Sci. U.S.A. 84:5680-5684(1987) [PubMed] [Europe PMC] [Abstract]

"Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides."
J. Invest. Dermatol. 91:458-464(1988) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region."
J. Biol. Chem. 264:8887-8891(1989) [PubMed] [Europe PMC] [Abstract]

"Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis."
Hum. Mol. Genet. 6:1021-1028(1997) [PubMed] [Europe PMC] [Abstract]

"Isolation and characterization of human elastin cDNAs, and age-associated variation in elastin gene expression in cultured skin fibroblasts."
Lab. Invest. 58:270-277(1988) [PubMed] [Europe PMC] [Abstract]

"Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients."
Genomics 36:328-336(1996) [PubMed] [Europe PMC] [Abstract]

"LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition."
Cell 86:59-69(1996) [PubMed] [Europe PMC] [Abstract]

"Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)."
J. Biol. Chem. 274:981-986(1999) [PubMed] [Europe PMC] [Abstract]

"Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay."
Hum. Genet. 106:577-588(2000) [PubMed] [Europe PMC] [Abstract]

"Mass spectrometric characterization of human skin elastin peptides produced by proteolytic digestion with pepsin and thermitase."
J. Chromatogr. A 1083:120-126(2005) [PubMed] [Europe PMC] [Abstract]

"Characterization of peptides resulting from digestion of human skin elastin with elastase."
Proteins 61:649-657(2005) [PubMed] [Europe PMC] [Abstract]

"Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa."
Hum. Mol. Genet. 15:3379-3386(2006) [PubMed] [Europe PMC] [Abstract]

"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."
J. Invest. Dermatol. 129:1650-1655(2009) [PubMed] [Europe PMC] [Abstract]