The HPS6 antibody targets the Hermansky-Pudlak syndrome type 6 (HPS6) protein, encoded by the *HPS6* gene located on human chromosome 15. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and, in some subtypes, pulmonary fibrosis or immunodeficiency. HPS6 is one of over 10 known HPS-associated genes, which are critical for the biogenesis and function of lysosome-related organelles (LROs), including melanosomes, platelet dense granules, and lysosomes.
HPS6 protein interacts with other HPS proteins (e.g., HPS5) to form the BLOC-2 (Biogenesis of Lysosome-related Organelles Complex-2) complex. BLOC-2 regulates intracellular trafficking, particularly the sorting of cargo proteins to LROs. Mutations in *HPS6* disrupt these processes, leading to the clinical manifestations of HPS.
HPS6 antibodies are primarily used in research to study protein expression, localization, and function in cellular models or patient-derived samples. They aid in diagnosing HPS subtypes and elucidating molecular mechanisms underlying LRO dysfunction. Commercially available HPS6 antibodies include monoclonal and polyclonal variants, validated for techniques like Western blotting, immunofluorescence, or immunohistochemistry. Research on HPS6 also contributes to understanding broader cellular trafficking pathways and potential therapeutic targets for HPS and related disorders.