ELN wt Allele

Cancer Terms -> Gene -> Structural Gene -> Extracellular Matrix Protein Gene -> ELN Gene -> ELN wt Allele

ELN wt Allele 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.

ELN wt Allele Synonyms

ELN wt Allele, Elastin (Supravalvular Aortic Stenosis, Williams-Beuren Syndrome) wt Allele, FLJ38671, FLJ43523, SVAS, WBS, WS

Terms in ELN wt Allele category

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