Entrez gene ID | | 26985 |
Official gene symbol | | AP3M1 |
Full name | | adaptor-related protein complex 3, mu 1 subunit |
Aliases | | ,MGC22164, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q22.2 |
Gene position | | 75910826 - 75880015 Map Viewer |
Gene orientation | | minus |
Gene size | | 30812 bp |
Gene sequence |
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OMIM ID | | 610366 |
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