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機能
Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.
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組織特異性
Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes.
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関連疾患
Defects in NR3C2 are a cause of autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]. PHA1 is characterized by urinary salt wasting, resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal dominant form that is mild, and the recessive form which is more severe and due to defects in any of the epithelial sodium channel subunits. In AD-PHA1 the target organ defect is confined to kidney. Clinical expression can vary from asymptomatic to moderate. It may be severe at birth, but symptoms remit with age. Familial and sporadic cases have been reported.
Defects in NR3C2 are a cause of early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]. Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.
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配列類似性
Belongs to the nuclear hormone receptor family. NR3 subfamily.
Contains 1 nuclear receptor DNA-binding domain.
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ドメイン
Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
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翻訳後修飾
Phosphorylated.
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細胞内局在
Cytoplasm. Nucleus. Endoplasmic reticulum membrane. Cytoplasmic and nuclear in the absence of ligand; nuclear after ligand-binding. When bound to HSD11B2, it is found associated with the endoplasmic reticulum membrane.
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Information by UniProt
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参照データベース
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別名
- Aldosterone receptor antibody
- MCR antibody
- MCR_HUMAN antibody
- MGC133092 antibody
- Mineralocorticoid receptor antibody
- MLR antibody
- MR antibody
- NR3 C2 antibody
- NR3C2 antibody
- NR3C2 protein antibody
- Nuclear receptor subfamily 3 group C member 2 antibody
see all