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 g...
Topics
- Adaptor Protein Complex beta Subunits
- Adaptor Proteins, Vesicular Transport
- Albinism, Oculocutaneous
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- COS Cells
- Cloning, Molecular
- Contig Mapping
- DNA, Complementary
- Female
- Gene Expression