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ap3m1

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Official Full Name
adaptor-related protein complex 3, mu 1 subunit
Background
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 may be directly involved 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. Alternatively spliced transcript variants encoding the same protein have been observed.
Synonyms
AP3M1; adaptor-related protein complex 3, mu 1 subunit; AP-3 complex subunit mu-1; Adapter-related protein complex 3 mu-1 subunit; AP-3 adapter complex mu3A subunit; AP3M1_HUMAN; CLATHRIN ADAPTOR COMPLEX AP3; Mu-adaptin 3A; mu3A; Mu3A-adaptin; clathrin adaptor complex AP3, mu-3A subunit; MGC22164; AP-3 adaptor complex mu3A subunit; adapter-related protein c; cb430

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