MRAP : melanocortin 2 receptor accessory protein
Description
MRAP (melanocortin 2 receptor accessory protein) is a protein that plays a crucial role in steroid hormone signaling, specifically by modulating the activity of the melanocortin 2 receptor (MC2R). MC2R is essential for the production of cortisol, a vital stress hormone. MRAP acts as a chaperone protein, ensuring the proper folding and trafficking of MC2R to the cell surface, where it can bind to its ligand, adrenocorticotropic hormone (ACTH). This interaction leads to the activation of downstream signaling pathways, culminating in cortisol synthesis.
Associated Diseases
- Familial glucocorticoid deficiency (FGD): Mutations in the MRAP gene can cause FGD, a rare genetic disorder characterized by insufficient cortisol production. This deficiency can lead to life-threatening symptoms, such as hypoglycemia, dehydration, and shock.
- Adrenocortical carcinoma (ACC): While not directly caused by MRAP mutations, some studies suggest a potential link between MRAP expression and ACC development.
- Obesity and metabolic disorders: Recent research points to a potential role for MRAP in regulating energy metabolism and obesity. More studies are needed to fully understand this connection.
Did you know?
MRAP is highly expressed in the adrenal glands, the primary site of cortisol production.
