melanocortin 2 receptor
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The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor. This protein is found primarily in the adrenal glands, which are hormone-producing glands located on top of each kidney.
Normal function
The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor. This protein is found primarily in the adrenal glands, which are hormone-producing glands located on top of each kidney.
The ACTH receptor is embedded in the membrane of cells where it attaches (binds) to ACTH. ACTH is a hormone that is released by the pituitary gland, located at the base of the brain. The binding of ACTH to its receptor triggers the adrenal glands to produce a group of hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar (glucose) levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
The ACTH receptor also likely plays a role in the development of the adrenal glands before birth.
Conditions referring to this gene or chromosome
Altri nomi
ACTH receptor
ACTHR
ACTHR_HUMAN
adrenocorticotropic hormone receptor
adrenocorticotropin receptor
corticotropin receptor
MC2 receptor
melanocortin 2 receptor (adrenocorticotropic hormone)
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Ulteriori letture e riferimenti
- melanocortin 2 receptor; MedlinePlus, National Library of Medicine.
- Clark AJ, Chan LF, Chung TT, Metherell LA. The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):159-65. doi: 10.1016/j.beem.2008.09.006.
- Liang L, Angleson JK, Dores RM. Using the human melanocortin-2 receptor as a model for analyzing hormone/receptor interactions between a mammalian MC2 receptor and ACTH(1-24). Gen Comp Endocrinol. 2013 Jan 15;181:203-10. doi: 10.1016/j.ygcen.2012.11.011. Epub 2012 Nov 29.
- Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJ, Metherell LA. ACTH resistance: genes and mechanisms. Endocr Dev. 2013;24:57-66. doi: 10.1159/000342504. Epub 2013 Feb 1.
- Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA. Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.
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