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]
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]