EDNRB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EDNRB wild-type allele is located in the vicinity of 13q22 and is approximately 24 kb in length. This allele, which encodes endothelin receptor type B 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.

**Synonyms:** - ABCDS - ET-B - ET-BR - ETB - ETB1 - ETBR - ETRB - Endothelin Receptor Type B wt Allele - HSCR - HSCR2 - WS4A