AP3M1
Description
The AP3M1 (adaptor related protein complex 3 subunit mu 1) is a protein-coding gene located on chromosome 10.
AP-3 complex subunit mu-1 is a protein encoded by the AP3M1 gene in humans. This protein forms the medium subunit of AP-3, an adaptor-related protein complex located in the Golgi region and other cellular compartments. AP-3 aids in vesicle budding from the Golgi membrane and may play a direct role in sorting proteins to lysosomes. It is a heterotetrameric 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 linked to Hermansky-Pudlak syndrome, a genetic disorder characterized by dysfunctional lysosome-related organelles. Alternative splicing of the AP3M1 gene can produce transcript variants encoding the same protein.
AP-3 complex is involved in vesicle budding from the Golgi membrane, potentially contributing to protein trafficking to lysosomes. In coordination with the BLOC-1 complex, AP-3 plays a crucial role in directing cargo into vesicles formed at cell bodies for delivery to neurites and nerve terminals.
AP3M1 is also known as -.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- multiple sclerosis
- Alzheimer disease
- endometrial cancer
- urinary bladder cancer
