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MC2R gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MC2R gene

The MC2R gene provides instructions for making the adrenocorticotropic hormone (ACTH) receptor, which is essential for the adrenal glands to produce vital hormones.

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.

Health Conditions Related to Genetic Changes

Familial glucocorticoid deficiency

More than 40 mutations in the MC2R gene have been found to cause familial glucocorticoid deficiency. This condition is characterized by potentially life-threatening low blood glucose (hypoglycemia), recurrent infections, and skin coloring darker than that of other family members (hyperpigmentation). MC2R gene mutations account for approximately 25 percent of cases of this condition.

Most of these mutations change single protein building blocks (amino acids) in the ACTH receptor. As a result, the receptor cannot be transported to the cell membrane or bind to ACTH. Without the binding of the ACTH receptor to its hormone, there is no signal to trigger the adrenal glands to produce glucocorticoids. A shortage of these hormones impairs blood glucose regulation, immune system function, and other cellular functions, leading to the signs and symptoms of familial glucocorticoid deficiency.

Primary macronodular adrenal hyperplasia

MedlinePlus Genetics provides information about Primary macronodular adrenal hyperplasia.

Other Names for This Gene

  • ACTH receptor
  • ACTHR
  • ACTHR_HUMAN
  • adrenocorticotropic hormone receptor
  • adrenocorticotropin receptor
  • corticotropin receptor
  • MC2 receptor
  • melanocortin 2 receptor (adrenocorticotropic hormone)

Frequently Asked Questions

Standard therapy is daily glucocorticoid replacement, most commonly hydrocortisone given in three divided doses to mimic natural circadian rhythms. Proper dosing restores normal cortisol, prevents hypoglycemia, and reduces infection risk. Lifelong monitoring is needed, but with adherence, patients can lead typical lives.
fter clinical suspicion, blood is drawn for a cortisol stimulation test with synthetic ACTH (cosyntropin). If cortisol fails to rise, DNA sequencing of the MC2R gene is performed, usually by next‑generation sequencing panels that detect point mutations, small deletions, or insertions.
The most common early clues are persistent low blood sugar (especially fasting hypoglycemia), recurrent infections, poor weight gain despite adequate intake, and unusually dark patches of skin (hyperpigmentation) that differ from family members. Laboratory tests will show low cortisol with normal aldosterone, prompting genetic evaluation of MC2R.
If a pathogenic MC2R variant has been identified in an affected family member, targeted prenatal testing (via chorionic villus sampling or amniocentesis) or pre‑implantation genetic diagnosis can be offered. Counseling should discuss the variable severity of the condition, the availability of effective post‑natal treatment, and the emotional implications of testing.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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