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