Melanocortin 1 receptor

Melanocortin 1 receptor (MC1R) is a G protein-coupled receptor that is expressed on the surface of melanocytes. It is involved in the regulation of melanin production, which is responsible for the pigmentation of the skin, hair, and eyes. Mutations in the MC1R gene can lead to a variety of pigmentation disorders, including red hair and increased susceptibility to skin cancer.

Function

MC1R is activated by melanocyte-stimulating hormone (MSH), which is produced by the pituitary gland. When activated, MC1R stimulates the production of eumelanin, a type of melanin that gives skin and hair a dark color. This is achieved through the activation of adenylate cyclase, which increases the levels of cyclic AMP in the cell and leads to the activation of protein kinase A.

Genetics

The MC1R gene is located on chromosome 16. It is highly polymorphic, with over 100 known variants. Some of these variants are associated with red hair and fair skin, while others are associated with dark skin and hair. The most common red hair-associated variants are R151C, R160W, and D294H.

Clinical significance

Mutations in the MC1R gene can lead to a variety of pigmentation disorders. For example, individuals with two copies of a red hair-associated variant have a high likelihood of having red hair and fair skin. These individuals also have an increased risk of developing skin cancer, particularly melanoma, due to the reduced production of eumelanin.

In addition to its role in pigmentation, MC1R has also been implicated in the regulation of pain and inflammation. Some studies have suggested that variants of the MC1R gene may be associated with increased sensitivity to pain and increased susceptibility to chronic pain conditions.

See also

• Melanocortin receptor
• Melanocyte-stimulating hormone
• Melanoma
• Red hair

References

Melanocortin 1 receptor Resources
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