Melanocortin 1 Receptor

The melanocortin 1 receptor (MC1R) is a major determinant of hair and skin pigmentation. Extensive case-control studies and studies on familial melanoma showed that genetic variations in MC1R play crucial roles in the development of both familial and sporadic melanoma.5152 More importantly, certain variants of the MC1R were associated with development of melanoma, independent of pigment synthesis. Therefore, apart from pigment synthesis, the MC1R is involved in hitherto unknown tumorigenic signal transduction pathways. Whether the genetic variants of MC1R harbor constitutively active properties, thus providing a causative link to aberrant proliferation, is yet to be determined.

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