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.

@article{Feng1999TheBS,
  title={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.},
  author={Liqiang Feng and Albert B. Seymour and S. T. Jiang and Alexandra To and Andrew A Peden and Edward K. Novak and Lijie Zhen and Michael E. Rusiniak and Eva M. Eicher and Margaret S Robinson and Michael B. Gorin and Richard T. Swank},
  journal={Human molecular genetics},
  year={1999},
  volume={8 2},
  pages={323-30}
}
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 deletion, were identified in two respective pearl alleles and are predicted to abrogate… CONTINUE READING

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