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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NR3C2-20-RE | 20 (40 μL) | 200 μL |  |
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| NR3C2-20-OR | 20 (40 μL) | 200 μL |  |
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| NR3C2-20-GO | 20 (40 μL) | 200 μL |  |
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| NR3C2-20-GR | 20 (40 μL) | 200 μL |  |
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| NR3C2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : NR3C2
Gene Name : Nuclear receptor subfamily 3 group C member 2
Chromosome : CHR 4: 148,445,286-148,078,763
Locus : 4q31.23
Alt. Genes : ZNF263
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