Gene Symbol | AP3D1 |
Entrez Gene ID | 8943 |
Full Name | adaptor related protein complex 3 delta 1 subunit |
Synonyms | ADTD,HPS10,hBLVR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
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. [provided by RefSeq, Feb 2017]. |
Disorder MIM: | |
Disorder Html: | ?Hermansky-Pudlak syndrome 10, 617050 (3) |