Predicted to enable endothelin receptor activity. Involved in several processes, including artery smooth muscle contraction; cAMP/PKA signal transduction; and positive regulation of cation channel activity. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in hypertension (multiple); lung disease; mandibulofacial dysostosis with alopecia; migraine; and obstructive sleep apnea. Biomarker of pulmonary hypertension.
RGD Description
This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]