QuickView for MC1R (gene)

Gene Symbol:

MC1R Homo sapiens

Full name:

melanocortin 1 receptor

Synonyms:

CMM5, MSH-R, SHEP2, melanocyte-stimulating hormone receptor, MC1-R, alpha melanocyte stimulating hormone receptor, melanotropin receptor

Genomic Location:

Chr 16: 88512527-88514886

Description:

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin prod...

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This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Cytogenetic Map:

16q24.3

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