The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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. HSP-1 is a component of multiple cytoplasmic organelles and is important for their normal development and function. It plays a role in intracellular protein sorting.
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Protein Aliases: Hermansky-Pudlak syndrome 1 protein; Hermansky-Pudlak syndrome 1 protein homolog; Hermansky-Pudlak syndrome protein homolog; MGC5277; pale ear
Gene Aliases: 6030422N11Rik; BB405864; BLOC3S1; Ep; Gm21361; HPS; HPS1