Anti-HPS4 Antibody

Hermansky-Pudlak syndrome (HPS) is a genetic disease characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. HPS1 and HPS4 are the most frequently mutated genes associated with HPS in humans. Both of HPS1 and HPS4 are components of two complexes involved in biogenesis of melanosome and lysosome-related organelles: BLOC-3 and BLOC-4. HPS4 is supposed to interact with HPS1 and stabilize HPS1. The human HPS4 migrates at about 90 kDa on SDS-PAGE, versus its predicated molecular mass of 77 kDa.