NR3C2 : nuclear receptor subfamily 3 group C member 2
Description
The NR3C2 (nuclear receptor subfamily 3 group C member 2) is a protein-coding gene located on chromosome 4.
The NR3C2 gene provides instructions for making the mineralocorticoid receptor protein. This protein regulates sodium levels in the body, which is important for controlling blood pressure and fluid balance. Mineralocorticoids, such as aldosterone, bind to and activate the mineralocorticoid receptor. This activated receptor then acts as a transcription factor, controlling the activity of specific genes. The mineralocorticoid receptor regulates specialized proteins in cell membranes that control the movement of sodium and potassium into and out of cells. In response to low sodium levels, the receptor increases the number and activity of these proteins, particularly in kidney cells. These proteins help maintain sodium levels by reabsorbing it and remove potassium by secreting it.
NR3C2 is also known as MCR, MLR, MR, NR3C2VIT.
Associated Diseases
- Pseudohypoaldosteronism, type I, autosomal dominant
- Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy
- Pseudohypoaldosteronism type 1
