: Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin. Specifically, after summarizing the current knowledge about MC1R structure and polymorphisms, we report data concerning the correlation between MC1R, phenotypic traits, skin aging, other diseases and skin cancers and their risk assessment through genetic testing.
Melanocortin-1 receptor (MC1R): a review for dermatologists / Guida, Stefania; Puig, Susana; DI Resta, Chiara; Sallustio, Fabio; Mangano, Eleonora; Stabile, Giorgio; Longo, Caterina; Pellacani, Giovanni; Guida, Gabriella; Rongioletti, Franco. - In: ITALIAN JOURNAL OF DERMATOLOGY AND VENEREOLOGY. - ISSN 2784-8450. - 159:3(2024), pp. 285-293. [10.23736/S2784-8671.24.07839-3]
Melanocortin-1 receptor (MC1R): a review for dermatologists
Longo, Caterina;
2024
Abstract
: Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin. Specifically, after summarizing the current knowledge about MC1R structure and polymorphisms, we report data concerning the correlation between MC1R, phenotypic traits, skin aging, other diseases and skin cancers and their risk assessment through genetic testing.
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