Rabbit Polyclonal HPS5(N-term) Antibody

The HPS5 (N-term) antibody is designed to detect the N-terminal region of the Hermansky-Pudlak syndrome 5 (HPS5) protein, a key component involved in the biogenesis and trafficking of lysosome-related organelles (LROs). HPS5 is part of the BLOC-2 (Biogenesis of Lysosome-related Organelles Complex-2) complex, along with HPS3 and HPS6. which regulates intracellular protein sorting and melanosome maturation. Mutations in the *HPS5* gene are linked to Hermansky-Pudlak syndrome type 5. a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and, in some cases, pulmonary fibrosis or immunodeficiency. The antibody is commonly used in research to study HPS5 expression, localization, and function in cellular models or tissues, particularly in the context of LRO defects and associated pathologies. It is validated for applications such as Western blotting, immunohistochemistry, and immunofluorescence, helping to elucidate molecular mechanisms underlying HPS5-related trafficking disorders. By targeting the N-terminal domain, the antibody provides specificity for distinguishing HPS5 from other BLOC-2 subunits or homologous proteins, aiding in both diagnostic and mechanistic studies of lysosomal storage diseases and albinism-related conditions.