BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Journal article

Hermansky-Pudlak syndrome (HPS) is a human disease characterized by partial loss of pigmentation and impaired blood clotting. These symptoms are caused by defects in the biogenesis of melanosomes and platelet dense granules, often referred to as lysosome-related organelles. Genes mutated in HPS encode subunits of the biogenesis of lysosome-related organelles complexes (BLOCs). BLOC-1 and BLOC-2, together with the AP-3 clathrin adaptor complex, act at early endosomes to sort components require...

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Authors: Gerondopoulos, A; Langemeyer, L; Liang, JR; Linford, A; Barr, F

• Publication status: Published
• Journal: Current biology : CB
• Volume: 22
• Issue: 22
• Pages: 2135-2139
• Publication date: 2012-11-01
• DOI: 10.1016/j.cub.2012.09.020
• EISSN: 1879-0445
• ISSN: 0960-9822
• Language: English
• Keywords: Amino Acid Sequence; Molecular Sequence Data; Guanine Nucleotide Exchange Factors; Membrane Proteins; Melanosomes; Humans; Hermanski-Pudlak Syndrome; Proteins; rab GTP-Binding Proteins; Mutation