ELN wt Allele

**Semantic type:** Gene or Genome

**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.

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