Article
Variant amino acids in different domains of the human melanocortin 1 receptor impair cell surface expression.
Cellular and molecular biology (Noisy-le-Grand, France) - 30 May 2006
Sánchez-Laorden B L, Sánchez-Más J, Turpín M C, García-Borrón J C, Jiménez-Cervantes C
Abstract excerpt
The alpha melanocyte-stimulating hormone receptor (MC1R) is a heptahelical G protein-coupled receptor (GPCR) found in the plasma membrane of melanocytes. By mediating the melanogenic response to melanocortins, MC1R is a major determinant of mammalian pigmentation. The human MC1R gene is unusually polymorphic. Many loss-of-function alleles have been described, but the molecular basis for their functional...
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