The cell biology of Hermansky-Pudlak syndrome: recent advances.
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. These manifestations arise from defects in the biogenesis of lysosome-related organelles, including melanosomes and platelet dense granules. Most genes associated with HPS in humans and rodent models of the disease encode components of multisubunit protein complexes that are expressed ubiquitously and play roles in intracellular protein trafficking and/or organelle distribution. A small GTPase of the Rab family, Rab38, is also implicated in the pathogenesis of the disease. This article reviews recent progress toward elucidating the cellular functions of these proteins.
Di Pietro
Santiago M
SM
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Dell'Angelica
Esteban C
EC
D022861:Hermanski-Pudlak Syndrome / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D011506:Proteins / Q000502:physiology
D011506:Proteins