May 21, 2025
AP3D1 - Adaptor-Related Protein Complex 3 Subunit Delta 1
The protein encoded by this gene is associated with the golgi region, as well as more peripheral structures. 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.
Mouse
mocha (three mutations)
Inheritence: recessive.
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