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Gene: ELN (elastin) Homo sapiens
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Symbol: ELN
Name: elastin
Description: Predicted to have extracellular matrix binding activity and extracellular matrix constituent conferring elasticity. Involved in outflow tract morphogenesis. Localizes to the elastic fiber. Implicated in several diseases, including aortic disease (multiple); cutis laxa (multiple); retinal disease (multiple); rheumatic disease (multiple); and vasculitis (multiple). Biomarker of several diseases, including Williams-Beuren syndrome; eye disease (multiple); photosensitivity disease; pseudoxanthoma elasticum; and thromboangiitis obliterans.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADCL1; elastin (supravalvular aortic stenosis, Williams-Beuren syndrome); FLJ38671; FLJ43523; SVAS; tropoelastin; WBS; WS
Orthologs:
Mus musculus (house mouse) : Eln (elastin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Eln (elastin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Eln (elastin)
Pan paniscus (bonobo/pygmy chimpanzee) : ELN (elastin)
Canis lupus familiaris (dog) : ELN (elastin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Eln (elastin)
Sus scrofa (pig) : ELN (elastin)
Chlorocebus sabaeus (African green monkey) : ELN (elastin)
Heterocephalus glaber (naked mole-rat) : Eln (elastin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl774,027,789 - 74,069,907 (+)Ensembl
GRCh38774,027,772 - 74,069,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37773,442,119 - 73,484,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,080,363 - 73,122,173 (+)NCBINCBI36hg18NCBI36
Build 34772,887,168 - 72,927,681NCBI
Celera768,923,491 - 68,963,674 (+)NCBI
Cytogenetic Map7q11.23NCBI
HuRef769,326,571 - 69,367,012 (+)NCBIHuRef
CHM1_1773,587,503 - 73,629,630 (+)NCBICHM1_1
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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