Background: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous, autosomal recessive disorder. It is characterized by oculocutaneous albinism, lysosomal storage defects and prolonged bleeding due to platelet storage pool deficiency. There are 10 HPS genes encoding HPS proteins that all interact within three distinct ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in these genes cause HPS. Hermansky-Pudlak syndrome 6 protein (HPS-6), also designated Ruby-eye protein homolog (Ru) regulates the function and synthesis of lysosomes and other specialized organelles. HPS-6 interacts with HPS-5 to form the BLOC2 complex, also referred to as biogenesis of lysosome-related organelles complex-2. Defects in HPS6 can cause the Hermansky-Pudlak syndrome 6 (HPS6).
Description: Rabbit polyclonal to HPS6
Immunogen: KLH conjugated synthetic peptide derived from HPS6
Specificity: ·Reacts with Human, Mouse and Rat.
.·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 83 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/50-200;
·Immunocytochemistry/Immunofluorescence: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.
