Protein Name melanocortin 1 receptor
Organism Homo sapiens
Gene ID 4157
Gene Symbol

MC1R

UniProt Q01726 (MSHR_HUMAN), Q1JUL4 (Q1JUL4_HUMAN)
Relationships Total Number of functionally related compound(s) : 136
Total Number of Articles : 223
Description

melanocortin 1 receptor

Gene Summary

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. [provided by RefSeq, Jul 2008]

synonyms
  • melanocyte-stimulating hormone receptor
  • MC1-R
  • alpha melanocyte stimulating hormone receptor
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Properties