The INDIVIDUALIST

A Wiki about biochemical individuality

Nutrigenomics

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Description

  • Species: Homo sapiens
  • Chromosome: 16; Location: 16q24.3
  • GeneID: 4157
  • Primary source: HGNC:6929

Summary

  • Official Symbol: MC1R and Name: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
  • Gene type: protein coding
  • Gene name: MC1R
  • Gene aliases: MSH-R; MGC14337

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 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.

Discussion

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Pubmed Melanocortin 1 receptor signaling is regulated by GRK2 and GRK6, which may be important determinants of skin pigmentation. Pubmed Melanocortin-1 receptor has a role in skin cancer risk phenotypes through a polymorphism. Pubmed

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