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AP3M1
Adaptor-related Protein Complex 3, Mu 1 Subunit
AP3M1 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.
| Gene Name: | Adaptor-related Protein Complex 3, Mu 1 Subunit |
| Synonyms: | AP3M1, AP-3 complex subunit mu-1, Mu3A-adaptin, Mu-adaptin 3A |
| Target Sequences: | NM_012095 NP_036227.1 Q9Y2T2 |
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