MC1R : melanocortin 1 receptor

Description

The MC1R (melanocortin 1 receptor) is a protein-coding gene located on chromosome 16.

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.

The MC1R gene encodes a protein known as the melanocortin 1 receptor (MC1R), which plays a key role in pigmentation by mediating the production of melanin in melanocytes. MC1R acts as a receptor for various hormones, including alpha, beta, and gamma melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The receptor's activity is regulated by G proteins, which activate adenylate cyclase, ultimately leading to the regulation of cyclic adenosine monophosphate (cAMP) signaling within melanocytes. This cAMP signaling pathway is crucial for melanogenesis, the process of producing eumelanin (black/brown pigment) and phaeomelanin (red/yellow pigment).

MC1R is also known as CMM5, MSH-R, SHEP2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing