mr antibody, si:ch211-189l17.1 antibody, LOC100302443 antibody, NR3C2 antibody, LOC443144 antibody, MLR antibody, MR antibody, MCR antibody, NR3C2VIT antibody, Mlr antibody, mlr antibody, nuclear receptor subfamily 3, group C, member 2 antibody, nuclear receptor subfamily 3 group C member 2 antibody, mineralocorticoid receptor antibody, nuclear receptor subfamily 3 group C member 2 L homeolog antibody, nr3c2 antibody, NR3C2 antibody, LOC443144 antibody, Nr3c2 antibody, nr3c2.L antibody
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.