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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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