EDN3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EDN3 wild-type allele is located in the vicinity of 20q13.32 and is approximately 26 kb in length. This allele, which encodes endothelin-3 protein, plays a role in vasoconstriction. Mutation of the gene is associated with congenital central hyperventilation syndrome, Waardenburg syndrome type 4B and increased susceptibility to Hirschsprung disease (aganglionic megacolon).

**Synonyms:** - ET-3 - ET3 - Endothelin 3 wt Allele - HSCR4 - PPET3 - WS4B