NR3C2基因突变与药物因子介绍
该基因编码盐皮质激素受体，该受体介导醛固酮在限制性靶细胞内的盐和水平衡作用该蛋白作为配体依赖性转录因子，与盐皮质激素反应元件结合，以反式激活靶基因。该基因突变导致常染色体显性假醛固酮增多症I型，一种以尿盐消耗为特征的疾病这个基因的缺陷也与早发性高血压和妊娠期严重恶化有关。选择性剪接导致多个转录变体[由RefSeq提供，2009年10月]
This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
