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Genetics Home Reference: your guide to understanding genetic conditions
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MC1R

Reviewed March 2007

What is the official name of the MC1R gene?

The official name of this gene is “melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor).”

MC1R is the gene's official symbol. The MC1R gene is also known by other names, listed below.

What is the normal function of the MC1R gene?

The MC1R gene provides instructions for making a protein called the melanocortin 1 receptor. This receptor plays an important role in normal pigmentation. The receptor is primarily located on the surface of melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.

Melanocytes make two forms of melanin, eumelanin and pheomelanin. The relative amounts of these two pigments help determine the color of a person's hair and skin. People who produce mostly eumelanin tend to have brown or black hair and dark skin that tans easily. Eumelanin also protects skin from damage caused by ultraviolet (UV) radiation in sunlight. People who produce mostly pheomelanin tend to have red or blond hair, freckles, and light-colored skin that tans poorly. Because pheomelanin does not protect skin from UV radiation, people with more pheomelanin have an increased risk of skin damage caused by sun exposure.

The melanocortin 1 receptor controls which type of melanin is produced by melanocytes. When the receptor is activated, it triggers a series of chemical reactions inside melanocytes that stimulate these cells to make eumelanin. If the receptor is not activated or is blocked, melanocytes make pheomelanin instead of eumelanin.

Common variations (polymorphisms) in the MC1R gene are associated with normal differences in skin and hair color. Certain genetic variations are most common in people with red hair, fair skin, freckles, and an increased sensitivity to sun exposure. These MC1R polymorphisms reduce the ability of the melanocortin 1 receptor to stimulate eumelanin production, causing melanocytes to make mostly pheomelanin. Although MC1R is a key gene in normal human pigmentation, researchers believe that the effects of other genes also contribute to a person's hair and skin coloring.

The melanocortin 1 receptor is also active in cells other than melanocytes, including cells involved in the body's immune and inflammatory responses. The receptor's function in these cells is unknown.

Does the MC1R gene share characteristics with other genes?

The MC1R gene belongs to a family of genes called GPCR (G protein-coupled receptors).

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 MC1R gene related to health conditions?

cancers - increased risk from variations of the MC1R gene

Many genetic changes in the MC1R gene increase the risk of developing skin cancer, including a common, serious form of skin cancer that begins in melanocytes (melanoma). Alterations in the MC1R gene disrupt the ability of the melanocortin 1 receptor to trigger eumelanin production in melanocytes. Because eumelanin normally protects skin from the harmful effects of UV radiation, a lack of this pigment leaves fair skin more vulnerable to damage from sun exposure. Skin damage caused by UV radiation from the sun is a major risk factor for developing melanoma and other forms of skin cancer.

Studies suggest that variations in the MC1R gene may also increase the risk of developing melanoma in the absence of UV radiation-related skin damage. In these cases, melanomas can occur in people of dark or light skin coloring. These cancers are often associated with mutations in additional genes related to melanoma risk, such as the BRAF and CDKN2A genes. Researchers are working to explain the complex relationship among MC1R variations, other genetic and environmental factors, and melanoma risk.

oculocutaneous albinism - course of condition modified by mutations in the MC1R gene

Certain genetic changes in the MC1R gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is caused by mutations in the OCA2 gene, is characterized by fair hair, light-colored eyes, creamy white skin, and vision problems. People with genetic changes in both the OCA2 and MC1R genes have many of the usual features of oculocutaneous albinism type 2; however, they typically have red hair instead of the usual yellow, blond, or light brown hair seen with this condition.

Where is the MC1R gene located?

Cytogenetic Location: 16q24.3

Molecular Location on chromosome 16: base pairs 89,917,878 to 89,920,976

The MC1R gene is located on the long (q) arm of chromosome 16 at position 24.3.

The MC1R gene is located on the long (q) arm of chromosome 16 at position 24.3.

More precisely, the MC1R gene is located from base pair 89,917,878 to base pair 89,920,976 on chromosome 16.

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 MC1R?

You and your healthcare professional may find the following resources about MC1R 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 MC1R gene or gene products?

  • MC1-R
  • Melanocortin-1 receptor
  • melanocyte stimulating hormone receptor
  • melanotropin receptor
  • MSH-R
  • MSHR_HUMAN

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 MC1R?

albinism ; cancer ; gene ; hormone ; melanin ; melanocytes ; melanoma ; pigment ; pigmentation ; protein ; radiation ; receptor ; retina ; sensitivity ; tissue

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

References

  • Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet. 2004 Feb 15;13(4):447-61. Epub 2004 Jan 6. (http://www.ncbi.nlm.nih.gov/pubmed/14709592?dopt=Abstract)
  • García-Borrón JC, Sánchez-Laorden BL, Jiménez-Cervantes C. Melanocortin-1 receptor structure and functional regulation. Pigment Cell Res. 2005 Dec;18(6):393-410. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16280005?dopt=Abstract)
  • Ha T, Naysmith L, Waterston K, Oh C, Weller R, Rees JL. Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype. Ann N Y Acad Sci. 2003 Jun;994:339-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12851334?dopt=Abstract)
  • Healy E. Melanocortin 1 receptor variants, pigmentation, and skin cancer susceptibility. Photodermatol Photoimmunol Photomed. 2004 Dec;20(6):283-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15533235?dopt=Abstract)
  • Kanetsky PA, Rebbeck TR, Hummer AJ, Panossian S, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Busam K, From L, Mujumdar U, Wilcox H, Begg CB, Berwick M. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res. 2006 Sep 15;66(18):9330-7. (http://www.ncbi.nlm.nih.gov/pubmed/16982779?dopt=Abstract)
  • King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003 Sep;73(3):638-45. Epub 2003 Jul 22. (http://www.ncbi.nlm.nih.gov/pubmed/12876664?dopt=Abstract)
  • Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC. MC1R germline variants confer risk for BRAF-mutant melanoma. Science. 2006 Jul 28;313(5786):521-2. Epub 2006 Jun 29. (http://www.ncbi.nlm.nih.gov/pubmed/16809487?dopt=Abstract)
  • Mumm CD, Draznin M. Melanocortin-1 receptor: loss of function mutations and skin cancer. Dermatol Online J. 2006 Sep 8;12(5):13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16962028?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4157)
  • Rees JL. Genetics of hair and skin color. Annu Rev Genet. 2003;37:67-90. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14616056?dopt=Abstract)
  • Rees JL. The genetics of sun sensitivity in humans. Am J Hum Genet. 2004 Nov;75(5):739-51. Epub 2004 Sep 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15372380?dopt=Abstract)
  • Rouzaud F, Kadekaro AL, Abdel-Malek ZA, Hearing VJ. MC1R and the response of melanocytes to ultraviolet radiation. Mutat Res. 2005 Apr 1;571(1-2):133-52. Epub 2005 Jan 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15748644?dopt=Abstract)
  • Sturm RA. Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res. 2002 Oct;12(5):405-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12394181?dopt=Abstract)

 

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: March 2007
Published: November 17, 2014