Mineralocorticoid receptor

Mineralocorticoid receptor (MR), also known as NR3C2 (nuclear receptor subfamily 3, group C, member 2), is a protein that in humans is encoded by the NR3C2 gene. It is a receptor for mineralocorticoids such as aldosterone and deoxycorticosterone.

Structure

The mineralocorticoid receptor is a member of the nuclear receptor family of intracellular receptors. It is a protein with a molecular weight of approximately 107 kDa. The receptor is composed of several domains, including a DNA-binding domain, a hinge region, and a ligand-binding domain.

Function

The mineralocorticoid receptor plays a crucial role in maintaining electrolyte and fluid balance in the body. It does this by binding to mineralocorticoids, which are hormones produced by the adrenal gland. Once bound, the receptor-hormone complex can enter the nucleus of a cell and influence the transcription of specific genes, leading to changes in the production of proteins involved in electrolyte and fluid balance.

Clinical significance

Mutations in the NR3C2 gene can lead to a variety of conditions, including pseudohypoaldosteronism type 1 (PHA1), a disorder characterized by salt wasting, failure to thrive, and dehydration. In addition, overactivity of the mineralocorticoid receptor has been implicated in conditions such as hypertension and heart failure.

See also

• Aldosterone
• Deoxycorticosterone
• Nuclear receptor
• Pseudohypoaldosteronism

References

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