Ednrb - endothelin receptor type B Gene

中文名称：B 型内皮素受体

种属: Mus musculus

同用名: ETb; ET-B; ET-BR; ETR-b; Sox10m1

关于 Ednrb

功能概要

该基因编码 G 蛋白偶联受体家族的一个成员。它编码内皮素受体，内皮素是参与血管收缩的肽。编码的蛋白质激活磷脂酰肌醇-钙第二信使系统，是肠神经元和黑素细胞发育所必需的。由于神经嵴衍生细胞的缺陷，基因破坏会导致色素沉着异常、耳聋和结肠异常扩张。在花斑小鼠、先天性巨结肠和 4 型 Waardenburg 综合征小鼠模型中发现了该基因的突变。肾集合管特异性基因缺失导致钠潴留和高血压。可变剪接导致多个转录本变体。 [RefSeq 提供，2013 年 1 月]

This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, Peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]