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The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances
Author(s) -
Di Pietro Santiago M.,
Dell'Angelica Esteban C.
Publication year - 2005
Publication title -
traffic
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.677
H-Index - 130
eISSN - 1600-0854
pISSN - 1398-9219
DOI - 10.1111/j.1600-0854.2005.00299.x
Subject(s) - hermansky–pudlak syndrome , biology , rab , biogenesis , organelle , melanosome , microbiology and biotechnology , small gtpase , endosome , organelle biogenesis , genetics , gtpase , gene , intracellular , signal transduction , pathology , medicine , pulmonary fibrosis , melanin , fibrosis
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.