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

POMC gene

The POMC gene provides instructions for making the proopiomelanocortin protein, which is essential for regulating vital body functions including stress response, skin pigmentation, and energy balance.

Normal Function

The POMC gene provides instructions for making a protein called proopiomelanocortin (POMC), which is cleaved into smaller pieces called peptides. These peptides bind to specific proteins in different regions of the body, triggering signaling pathways that control many important functions.

Peptides produced from the POMC protein include:

  • Adrenocorticotropic hormone (ACTH): Binds to the melanocortin 2 receptor (MC2R) to stimulate the release of cortisol, which helps maintain blood glucose levels, protects the body from stress, and suppresses inflammation.
  • Alpha-, beta-, and gamma-melanocyte stimulating hormones (α-, β-, and γ-MSH):
    • α-MSH: Binds to the melanocortin 1 receptor (MC1R) in skin and hair cells to stimulate the production of melanin.
    • β-MSH and α-MSH: Bind to the melanocortin 4 receptor (MC4R) in the brain to help maintain energy balance and control eating and weight.
    • γ-MSH: Binds to the melanocortin 3 receptor (MC3R), appearing to be involved in regulating sodium levels and blood pressure.
  • β-endorphin: Attaches to opioid receptors in the brain to stimulate signaling for pain relief.

Health Conditions Related to Genetic Changes

Proopiomelanocortin deficiency

Mutations in the POMC gene can lead to the production of an abnormally short version of the protein or no protein at all, resulting in an absence of the peptides derived from POMC. Consequences include:

  • Low cortisol: Caused by a lack of ACTH, leading to hypoglycemia and other health problems.
  • Pigmentation changes: Decreased α-MSH reduces melanin production, often resulting in red hair and pale skin.
  • Obesity: Loss of signaling from α-MSH and β-MSH in the brain dysregulates energy balance, leading to overeating and severe obesity.

Other Names for This Gene

  • ACTH
  • adrenocorticotropic hormone
  • adrenocorticotropin
  • alpha-melanocyte-stimulating hormone
  • alpha-MSH
  • beta-endorphin
  • beta-LPH
  • beta-melanocyte-stimulating hormone
  • beta-MSH
  • CLIP
  • COLI_HUMAN
  • corticotropin-like intermediary peptide
  • corticotropin-lipotropin
  • gamma-LPH
  • gamma-MSH
  • lipotropin beta
  • lipotropin gamma
  • LPH
  • melanotropin alpha
  • melanotropin beta
  • melanotropin gamma
  • met-enkephalin
  • MSH
  • NPP
  • opiomelanocortin prepropeptide
  • POC
  • pro-ACTH-endorphin
  • pro-opiomelanocortin
  • pro-opiomelanocortin preproprotein
  • proopiomelanocortin preproprotein

Frequently Asked Questions

The severe obesity in POMC deficiency is challenging to manage due to the dysregulation of energy balance caused by the lack of alpha- and beta-MSH signaling in the brain. Standard dietary and lifestyle interventions often have limited effectiveness. Management typically involves strict dietary control, often with calorie restriction, and a focus on nutrient-dense foods. However, the underlying hormonal imbalance makes weight loss difficult. Emerging therapies, such as MC4R agonists (medications that mimic the action of MSH on the melanocortin 4 receptor), are being developed and show promise in helping to manage the severe obesity in some patients with POMC deficiency.
Proopiomelanocortin deficiency is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of a mutated POMC gene (one from each parent) to develop the
The most critical early warning signs of proopiomelanocortin (POMC) deficiency, particularly concerning low cortisol, include recurrent episodes of low blood sugar (hypoglycemia), which can manifest as lethargy, irritability, poor feeding, seizures, or even coma. Other signs might include persistent vomiting, poor weight gain, and a general failure to thrive. Given that ACTH, derived from POMC, stimulates cortisol release, a lack of ACTH leads to adrenal insufficiency, which can be life-threatening if not recognized and treated promptly.
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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