This is an old revision of this page, as edited by Ffffrr(talk | contribs) at 10:27, 17 October 2022(Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens"). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.
Revision as of 10:27, 17 October 2022 by Ffffrr(talk | contribs)(Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens")
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]