Bio Background |
The protein encoded by this gene is the medium subunit ofAP-3, which is an adaptor-related protein complex associated withthe Golgi region as well as more peripheral intracellularstructures. AP-3 facilitates the budding of vesicles from the Golgimembrane and may be directly involved in protein sorting to theendosomal/lysosomal system. AP-3 is a heterotetrameric proteincomplex composed of two large subunits (delta and beta3), a mediumsubunit (mu3), and a small subunit (sigma 3). Mutations in one ofthe large subunits of AP-3 have been associated with theHermansky-Pudlak syndrome, a genetic disorder characterized bydefective lysosome-related organelles. Alternatively splicedtranscript variants encoding the same protein have been observed. |
Bio References |
Hashimoto, R., et al. Neurosci. Res. 65(1):113-115(2009)Grupe, A., et al. Am. J. Hum. Genet. 78(1):78-88(2006)Madrid, R., et al. EMBO J. 20(24):7008-7021(2001)Drake, M.T., et al. Mol. Biol. Cell 11(11):3723-3736(2000)Dell'Angelica, E.C., et al. Mol. Cell 3(1):11-21(1999) |