Article
Ocular albinism: evidence for a defect in an intracellular signal transduction system.
Nature genetics - 1 Sept 1999
Schiaffino M V, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi M T, Colla C, De Luca M, Tacchetti C, Ballabio A
Abstract excerpt
G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G proteins in the internal membranes suggests that a similar signalling mechanism might also be used at intracellular locations. We provide here structural evidence that the protein product of the ocular albinism type 1 gene (OA1), a pigment cell-specific...
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