Rabbit Monoclonal Antibody to AP3M1

The protein encoded by this gene is the medium subunit of AP~3, which is an adaptor~related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP~3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP~3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP~3 have been associated with the Hermansky~Pudlak syndrome, a genetic disorder characterized by defective lysosome~related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]