Selected melanocortin 1 receptor single-nucleotide polymorphisms differentially alter multiple signaling pathways.

J R Doyle1, J P Fortin, M Beinborn

  • 1Molecular Pharmacology Research Center, Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts, USA.

Summary

Investigating melanocortin 1 receptor (MC1R) single-nucleotide polymorphisms (SNPs) reveals altered signaling. Certain MC1R variants, like F196L, show reduced function, but small molecules may restore activity.

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