Aliases for AP3M1 Gene
External Ids for AP3M1 Gene
Previous GeneCards Identifiers for AP3M1 Gene
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 it may directly function 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for AP3M1 Gene
AP3M1 (Adaptor Related Protein Complex 3 Subunit Mu 1) is a Protein Coding gene. Diseases associated with AP3M1 include Hermansky-Pudlak Syndrome and Hermansky-Pudlak Syndrome 2. Among its related pathways are Lysosome and Chaperonin-mediated protein folding. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is AP3M2.
UniProtKB/Swiss-Prot Summary for AP3M1 Gene
Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.