Description
Product Characteristics:
Synonyms: Aldosterone receptor, MCR, MGC133092, MLR, MR, NR3 C2, NR3C2, NR3C2 protein, Nuclear receptor subfamily 3 group C member 2, MCR_HUMAN.
Target Information: 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]