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MC1R
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs2228479 | |||
| rs1805008 | |||
| rs1805005 | |||
| rs885479 | |||
| rs201326893 | |||
| rs201533137 | |||
| rs555179612 | |||
| rs756579024 | |||
| rs796296176 | |||
| rs914341120 | |||
| rs924429375 | |||
| rs2228478 | |||
| rs72813442 | |||
| rs1805007 | |||
| rs11641201 | |||
| rs2270459 | |||
| rs3212346 | |||
| rs3212369 | |||
| rs3212371 | |||
| rs62052210 |
Find on This Page
Summary
The MC1R gene encodes a protein called the melanocortin 1 receptor. This receptor plays an important role in normal pigmentation of the skin, hair, and eyes. The melanocortin 1 receptor is also active in cells involved in the body's immune and inflammatory responses but its function in these cells is unknown (R).
Protein names
Found in These Blog Articles
GHR Function
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.
More Information
Skin, hair, and eye color are primarily dependent on the relative amounts of eumelanin and pheomelanin, two forms of the melanin pigment group [R].
Eumelanin gives off a brown-black color, while pheomelanin gives off a red-yellow color. Typically, greater amounts of eumelanin result in darker skin, hair, and eyes [R].
Eumelanin is normally produced in response to activation of the melanocortin 1 receptor (MC1R), found on the surfaces of cells called melanocytes. Activation of this receptor is mediated by alpha-MSH [R].
When MC1R is inactivated or blocked, melanocytes instead stimulate the development of pheomelanin. Blocking of MC1R is mediated by ASIP [R].
Lighter skin is more susceptible to the negative effects of UV radiation. UV radiation from both the sun and artificial sources (e.g., tanning beds and sun lamps) can damage the DNA of melanocytes, potentially causing mutations that promote the development of a type of skin cancer called melanoma [R].
However, darker skin may hinder the efficacy of various therapies during the course of this disease, thereby promoting melanoma progression [R, R].
Unsurprisingly, a variant of MC1R has been associated with melanoma. This variant likely increases the production and activity of MC1R, leading to dysregulated melanin production and consequent disease progression [R, R, R].
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