HPS-4 Background Information 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. HPS-4, also designated light-ear protein homolog, is important in organelle biosynthesis. Defects in the gene encoding for the HSP-4 protein, HPS4, can cause Hermansky-Pudlak syndrome 4 (HPS4).
HPS-4 (S-16)
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HPS-4 (S-16): sc-33380. Western blot analysis of HPS-4 expression in HL-60 whole cell lysate.
