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Hermansky-Pudlak syndrome 3
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] (from
Feng et al., Lanzhou, China. In Zhongguo Zhong Yao Za Zhi, 2012
OBJECTIVE: To determine such molecular characteristic parameters as absolute molecular weight, molecular weight distribution, root-mean-square turning radius (Rg) and polydispersity index (Mw/Mn) of four components contained in Hedysari Radix polysaccharide 3 (HPS-3) and map weight-average molecular weight (Mw) with root-mean-square turning radius (Rg), in order to calculate conformations of the four components at solution state.
Huizing et al., Bethesda, United States. In Bmc Cell Biol, 2004
HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3.