基因名称(Gene Name)
NR3C2 MCR MLR
蛋白名称
Mineralocorticoid receptor (MR) (Nuclear receptor subfamily 3 group C member 2)
免疫原
Synthesized peptide derived from human protein . at AA range: 10-90
特异性
MCR Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
RSAD1; Radical S-adenosyl methionine domain-containing protein 1; mitochondrial; Oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1
背景
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],
功能
alternative products:Additional isoforms seem to exist,disease:Defects in NR3C2 are a cause of autosomal dominant pseudohypoaldosteronism type I (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 autosomal dominant 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.,disease:Defects in NR3C2 are a cause of early onset hypertension with severe exacerbation in pregnancy [MIM:605115]. Inheritance is autosomal dominant. The disease is characterized by the onset of se
