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Genetics Home Reference: your guide to understanding genetic conditions
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POMC

Reviewed February 2014

What is the official name of the POMC gene?

The official name of this gene is “proopiomelanocortin.”

POMC is the gene's official symbol. The POMC gene is also known by other names, listed below.

What is the normal function of the POMC gene?

The POMC gene provides instructions for making a protein called proopiomelanocortin (POMC), which is cut (cleaved) into smaller pieces called peptides that have different functions in the body. The peptides attach (bind) to one of several proteins in different regions of the body, and this binding triggers signaling pathways that control many important functions.

One peptide produced from the POMC protein is called adrenocorticotropic hormone (ACTH). ACTH binds to melanocortin 2 receptor (MC2R), stimulating the release of a hormone called cortisol. This hormone helps maintain blood sugar levels, protects the body from stress, and stops (suppresses) inflammation.

Three similar peptides called alpha-, beta-, and gamma-melanocyte stimulating hormones (α-, β-, and γ-MSH) are also cut from the POMC protein. The primary role of α-MSH is in the pigment-producing cells of the skin and hair (melanocytes), where it binds to melanocortin 1 receptor (MC1R). This attachment stimulates the production and release of a pigment called melanin, which is the substance that gives skin and hair their color.

The β-MSH peptide plays a role in weight regulation by binding to melanocortin 4 receptor (MC4R). Signaling through this receptor in the brain helps maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. The α-MSH peptide can also bind to MC4R and help maintain the correct energy balance.

Studies show that γ-MSH binds to melanocortin 3 receptor (MC3R). Signaling stimulated by this interaction appears to be involved in regulating the amount of sodium in the body and controlling blood pressure, although the mechanism is unclear.

Another peptide produced from POMC is β-endorphin. Attachment of β-endorphin to proteins in the brain called opioid receptors stimulates signaling for pain relief.

Does the POMC gene share characteristics with other genes?

The POMC gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the POMC gene related to health conditions?

proopiomelanocortin deficiency - caused by mutations in the POMC gene

Several mutations in the POMC gene have been found in people with proopiomelanocortin (POMC) deficiency. These gene mutations lead to production of an abnormally short version of the POMC protein or no protein at all. As a result, there is an absence of the peptides made from POMC, including ACTH, α-MSH, β-MSH, β-endorphin, and sometimes γ-MSH. Loss of these peptides prevents signaling through their receptor proteins and disrupts certain functions in the body. Without ACTH, there is a reduction in cortisol production, which leads to low blood sugar (hypoglycemia) and other problems in affected individuals. Decreased α-MSH in the skin reduces pigment production in melanocytes, which results in the red hair and pale skin often seen in people with POMC deficiency. Loss of signaling in the brain stimulated by α-MSH and β-MSH dysregulates the body's energy balance, leading to overeating and severe obesity. Shortage of γ-MSH or β-endorphin does not seem to cause health problems in people with this condition.

Where is the POMC gene located?

Cytogenetic Location: 2p23.3

Molecular Location on chromosome 2: base pairs 25,160,852 to 25,168,689

The POMC gene is located on the short (p) arm of chromosome 2 at position 23.3.

The POMC gene is located on the short (p) arm of chromosome 2 at position 23.3.

More precisely, the POMC gene is located from base pair 25,160,852 to base pair 25,168,689 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about POMC?

You and your healthcare professional may find the following resources about POMC helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the POMC gene or gene products?

  • 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
  • proopiomelanocortin preproprotein
  • pro-opiomelanocortin preproprotein

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding POMC?

deficiency ; gene ; hormone ; hypoglycemia ; inflammation ; melanin ; melanocytes ; Met ; overeating ; peptide ; pigment ; Pro ; protein ; receptor ; sodium ; stress

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Biebermann H, Castañeda TR, van Landeghem F, von Deimling A, Escher F, Brabant G, Hebebrand J, Hinney A, Tschöp MH, Grüters A, Krude H. A role for beta-melanocyte-stimulating hormone in human body-weight regulation. Cell Metab. 2006 Feb;3(2):141-6. (http://www.ncbi.nlm.nih.gov/pubmed/16459315?dopt=Abstract)
  • Kadekaro AL, Kanto H, Kavanagh R, Abdel-Malek Z. Significance of the melanocortin 1 receptor in regulating human melanocyte pigmentation, proliferation, and survival. Ann N Y Acad Sci. 2003 Jun;994:359-65. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12851336?dopt=Abstract)
  • Kathpalia PP, Charlton C, Rajagopal M, Pao AC. The natriuretic mechanism of Gamma-Melanocyte-Stimulating Hormone. Peptides. 2011 May;32(5):1068-72. doi: 10.1016/j.peptides.2011.02.006. Epub 2011 Feb 16. (http://www.ncbi.nlm.nih.gov/pubmed/21335042?dopt=Abstract)
  • Krude H, Biebermann H, Gruters A. Mutations in the human proopiomelanocortin gene. Ann N Y Acad Sci. 2003 Jun;994:233-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12851321?dopt=Abstract)
  • Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS. A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance. Cell Metab. 2006 Feb;3(2):135-40. (http://www.ncbi.nlm.nih.gov/pubmed/16459314?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5443)
  • OMIM: PROOPIOMELANOCORTIN (http://omim.org/entry/176830)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2014
Published: October 27, 2014