AP3B1

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AP3B1

A gene on chromosome  5q14.1 that encodes a subunit of the heterotetrameric AP3 complex, a protein complex composed of two large subunits (delta and beta), a medium subunit (mu), and a small subunit (sigma). AP3 plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes, as well as in biogenesis of melanosomes, platelet dense granules and lysosomes. AP3 interacts with clathrin, facilitating the budding of vesicles from the Golgi membrane.

Molecular pathology
AP3B1 mutations are associated with the Hermansky-Pudlak syndrome, which is characterised by defective lysosome-related organelles.
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Clinically, certain mutations can be detected with sequency analysis (HPS1, AP3B1 (HPS2), HPS3, HPS4, HPS5, HPS6, DTNBP1 (HSP7) and BLOC1S3 (HPS8)).
HPS2 re Pe in db The resort sits in the dunes above Perranporth beach, a surfer's paradise eight miles from Newquay, and the new restaurant reflects this.
The site was acquired for $160,000 nearly five years ago from HPS2 Partnership, led by Pete Hornibrook.
Mutations in the binding site of AP3 also cause CN in patients with Hermansky-Pudlak syndrome type 2 (HPS2) [14].
Medical OEM Dexteus, Inc., selected Lexan HPS2, a clear, injection-molding PC grade that combines toughness, impact resistance, and ductility, to produce a unique, single-use device called the Tisshield[TM].
The seller is HPS2 Partnership LLC, led by Pete Hornibrook.
HPS2 purchased the location for $85,000 in September 2005 from Country Club Development LLC, led by John Wright.
The seller is HPS2 Partnership LLC, led by Pete Homibrook, Michael Pearce and Lee Stephens.