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The human homologue of the mouse gene (the mice are of a muted brown colour), shown to be mutated in the Hermansky–Pudlak syndrome gene. The human protein (187 aa, 76% homologous to the mouse protein but with a vacuolar targeting motif) together with pallidin, is a component of the BLOC-1 complex (biogenesis of lysosome-related organelles complex-1).

Subjects: Medicine and Health.

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