AP-3 complex
adaptor protein complex AP-3
The AP-3 complex is a ubiquitously expressed adaptor-like complex that is composed of 4 distinct subunits and is likely involved in protein sorting in exocytic/endocytic pathways.
Genetic studies in yeast have revealed a functional role for the AP-3 complex in cargo-selective transport via a new alternative trafficking pathway from the Golgi to the vacuole/lysosome.
Pathology
AP3B1 mutations in the Hermansky-Pudlak syndrome (MIM.203300)
References
Feng L, Seymour AB, Jiang S, et al. The ß3A subunit gene (Ap3b1 ) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 1999;8:323-3303