Article
The beta3A 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.
Human molecular genetics - 1 Feb 1999
Feng L, Seymour A B, Jiang S, To A, Peden A A, Novak E K, Zhen L, Rusiniak M E, Eicher E M, Robinson M S, Gorin M B, Swank R T
Abstract excerpt
Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/candidate cloning approach. Mutations, including a large internal tandem duplication and a...
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