Health / Medical Topics |
EDNRB wt Allele
Human EDNRB wild-type allele is located in the vicinity of 13q22 and is approximately 24 kb in length. This allele, which encodes endothelin B receptor protein, plays a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. Mutations in this gene are associated with ABCD syndrome, Waardenburg syndrome, type 4A, and susceptibility to Hirschsprung disease 2. (NCI Thesaurus)
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