靶标:
MC1R
产品别名:
CMM5; MSH-R; SHEP2; MC1R; melanocortin 1 receptor; melanocortin 1 receptor; melanocyte-stimulating hormone receptor; MC1-R; alpha melanocyte stimulating hormone receptor; melanotropin receptor; 黑皮质素-1受体;
背景信息:
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 de