Gene: AP3D1
Alternate names for this Gene: ADTD|HPS10|hBLVR
Gene Summary: The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome.
Gene is located in Chromosome: 19
Location in Chromosome : 19p13.3
Description of this Gene: adaptor related protein complex 3 subunit delta 1
Type of Gene: protein-coding