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    發布時間:2022-08-16 15:03 原文鏈接: NR3C2基因編碼功能及結構描述

    該基因編碼鹽皮質激素受體,該受體介導醛固酮在限制性靶細胞內的鹽和水平衡作用該蛋白作為配體依賴性轉錄因子,與鹽皮質激素反應元件結合,以反式激活靶基因。該基因突變導致常染色體顯性假醛固酮增多癥I型,一種以尿鹽消耗為特征的疾病這個基因的缺陷也與早發性高血壓和妊娠期嚴重惡化有關。選擇性剪接導致多個轉錄變體.

    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]

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