EDNRB


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EDNRB

A gene on chromosome 13q22 that encodes endothelin-B receptor, a member of the endothelin receptor group of G-protein-coupled
receptors, located primarily in the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation.

Molecular pathology
EDNRB mutations cause Hirschsprung disease type 2.
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References in periodicals archive ?
The percentage of LSA/TCA patients harboring mutations was quite similar to that of SSA patients with mutations, probably because EDNRB mutations are more frequently associated with SSA (1).
In addition, the fact that mutations leading to disease are inherited from unaffected parents indicates that the HSCR phenotype results from interaction of several genes and/or modifiers, as has been demonstrated with genes of the RET and EDNRB pathways (20, 21, 28, 29).
Each of the genes coding for protein components of the RET and EDNRB signaling pathways is to be considered a HSCR candidate gene, contributing to HSCR on its own or in combination.
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.