Gene Symbol | NR3C2 |
Entrez Gene ID | 4306 |
Full Name | nuclear receptor subfamily 3 group C member 2 |
Synonyms | MCR,MLR,MR,NR3C2VIT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3); Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) |