" /> ELN wt Allele - CISMeF





Preferred Label : ELN wt Allele;

NCIt synonyms : Elastin wt Allele; FLJ43523; WBS; WS; SVAS; FLJ38671; Elastin (Supravalvular Aortic Stenosis, Williams-Beuren Syndrome) Gene;

NCIt definition : Human ELN wild-type allele is located in the vicinity of 7q11.23 and is approximately 42 kb in length. This allele, which encodes elastin protein, plays a role in the regulation of the structure of the extracellular matrix. Mutations in the gene are associated with autosomal dominant cutis laxa and supravalvular aortic stenosis. Haploinsufficiency may be a factor in Williams-Beuren syndrome.;

GenBank Accession Number : NM_000501;

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16/05/2024


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