Ednra - endothelin receptor type A Gene

中文名称：内皮素受体A型

种属: Mus musculus

同用名: ETa; ET-AR; AEA001; Gpcr10; Mhdaaea1

关于 Ednra

功能概要

该基因编码的蛋白可启动内皮素受体活性。参与多个过程，包括细胞对促性腺激素刺激的反应；循环系统发育；和神经元分化。作用于多个过程的上游或内部，包括腺苷酸环化酶抑制 G 蛋白偶联受体信号通路；神经嵴细胞发育；和调节葡萄糖跨膜转运。位于细胞外围。以多种结构表达，包括消化系统；鳃弓;心血管系统;中枢神经系统;和泌尿生殖系统。用于研究伴有脱发和腭心面综合征的下颌面骨发育不全。与高血压有关的该基因的人类直系同源物（多个）；肺部疾病;伴有脱发的颌面骨发育不全；偏头痛;和阻塞性睡眠呼吸暂停。与人 EDNRA（A 型内皮素受体）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables Endothelin Receptor activity. Involved in several processes, including cellular response to gonadotropin stimulus; circulatory system development; and neuron differentiation. Acts upstream of or within several processes, including adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; neural crest cell development; and regulation of glucose transmembrane transport. Located in cell periphery. Is expressed in several structures, including alimentary system; branchial arch; cardiovascular system; central nervous system; and genitourinary system. Used to study mandibulofacial dysostosis with alopecia and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in hypertension (multiple); lung disease; mandibulofacial dysostosis with alopecia; migraine; and obstructive sleep apnea. Orthologous to human EDNRA (Endothelin Receptor type A). [provided by Alliance of Genome Resources, Apr 2022]