[HTML][HTML] The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of …

PW Chiang, N Oiso, R Gautam, T Suzuki… - Journal of Biological …, 2003 - ASBMB
Hermansky-Pudlak syndrome (HPS) is a genetic disease of lysosome, melanosome, and
granule biogenesis. Mutations of six different loci have been associated with HPS in
humans, the most frequent of which are mutations of the HPS1 and HPS4 genes. Here, we
show that the HPS1 and HPS4 proteins are components of two novel protein complexes
involved in biogenesis of melanosome and lysosome-related organelles: biogenesis of
lysosome-related organelles complex-(BLOC) 3 and BLOC-4. The phenotypes of Hps1 …