ELN Chromosome 7
Elastin
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What This Gene Does
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. [provided by RefSeq, Aug 2017]
Associated Conditions (22)
Supravalvar aortic stenosis
ELN-related disorder
Cutis laxa
autosomal dominant 1
Familial atrioventricular septal defect
Inborn genetic diseases
Cardiomyopathy
Williams syndrome
See cases
Familial cancer of breast
Hypertelorism
Venous malformation
Dural ectasia
Abnormal digit morphology
Hepatocellular carcinoma
Cervical cancer
autosomal dominant
Familial thoracic aortic aneurysm and aortic dissection
Lung cancer
Thyroid cancer
+2 more conditions
Key Variants
RS1230920104
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Supravalvar aortic stenosis
Health Risk
RS1280128851
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, ELN-related disorder, Supravalvar aortic stenosis
Health Risk
RS1304441113
Conflicting classifications of pathogenicity
ELN-related disorder, ELN-related disorder
Health Risk
RS137953195
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1
Health Risk
RS138504338
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Inborn genetic diseases, Supravalvar aortic stenosis
Health Risk
RS138876104
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Inborn genetic diseases, Supravalvar aortic stenosis
Health Risk
RS139547471
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, ELN-related disorder, Supravalvar aortic stenosis
Health Risk
RS140337204
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Supravalvar aortic stenosis
Health Risk
RS142316834
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis
Health Risk
RS1440841207
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Supravalvar aortic stenosis
Health Risk
RS145519139
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 1, Supravalvar aortic stenosis
Health Risk
RS145612009
Conflicting classifications of pathogenicity
Supravalvar aortic stenosis, Cutis laxa, autosomal dominant 1
Health Risk
All Variants (217)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782238674 | Health Risk | Likely pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS782390271 | Health Risk | Likely pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS782528759 | Health Risk | Likely pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS782674700 | Health Risk | Likely pathogenic | Supravalvar aortic stenosis, Hepatocellular carcinoma, Supravalvar aortic stenosis |
| RS782755390 | Health Risk | Likely pathogenic | — |
| RS794729201 | Health Risk | Likely pathogenic | Cutis laxa, autosomal dominant 1, Cutis laxa |
| RS863223516 | Health Risk | Likely pathogenic | — |
| RS1064793880 | Health Risk | Pathogenic | — |
| RS137854452 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS137854454 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS137854455 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1400530335 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554666513 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554669297 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554669800 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554672587 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554672602 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554676454 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1554683650 | Health Risk | Pathogenic | — |
| RS1554686162 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1563826213 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1563836689 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1583959262 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1584494326 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1787875866 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1791508570 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1791626037 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Inborn genetic diseases, Supravalvar aortic stenosis |
| RS1791633917 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1793092853 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1794096639 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1794104889 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1794108907 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1794129841 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1794472287 | Health Risk | Pathogenic | — |
| RS1794880739 | Health Risk | Pathogenic | Williams syndrome, Williams syndrome |
| RS1795205877 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1797063858 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS1797225811 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 1, Cutis laxa |
| RS200862792 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2130826217 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2130830261 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2131151265 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2131453910 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2131603022 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2131856285 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2131858633 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2131925210 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2132059492 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2132079396 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2132135741 | Health Risk | Pathogenic | Supravalvar aortic stenosis, Supravalvar aortic stenosis |