Mc1r
Synonym(s)
DefinitionThis section has been translated automatically.
MC1R is the acronym for melanocortin-1 receptor. Melanocortin receptor1 is a transmembrane protein receptor for melanocyte stimulating hormone (MSH). It is expressed by melanocytes. The coding gene (MC1R gene) is located on chromosome 16 gene locus q24.3.
General informationThis section has been translated automatically.
After its activation, the melanocortin-1 receptor triggers a complex signaling cascade (MC1R signaling pathway) that leads to the production of eumelanin (but not pheomelanin).
Polymorphisms in the MC1R gene lead to inactivation of MC1R or its signaling pathway, causing decreased synthesis of eumelanin. This leads phenotypically to pale skin and red hair. This phenotype has a significantly higher incidence of melanoma due to the lack of pigmentation ability (Kennedy C et al. 2001).
MC1R, along with TYR and the melanosomal membrane transporter(OCA2), may function as autoantigens in the initiation of autoimmunologic inflammation in (non-segmental) vitiligo.
Furthermore, in versch. Furthermore, various studies have shown that a large proportion of malignant melanomas have an MC1R polymorphism. Correlations between MC1R and BRAF/NRAS mutations in malignant melanoma showed that MC1R polymorphisms influence somatic mutations in the BRAF gene.
LiteratureThis section has been translated automatically.
- Kennedy C et al (2001) Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.J Invest Dermatol 117:294-300.