AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1gene.[5][6]
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.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (Mar 1999). "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor". Mol Cell. 3 (1): 11–21. doi:10.1016/S1097-2765(00)80170-7. PMID10024875.
Craig HM, Reddy TR, Riggs NL, et al. (2000). "Interactions of HIV-1 nef with the mu subunits of adaptor protein complexes 1, 2, and 3: role of the dileucine-based sorting motif". Virology. 271 (1): 9–17. doi:10.1006/viro.2000.0277. PMID10814565.
