EDNRB

(redirected from Endothelin-B receptor)
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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 ?
Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.

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