The BLOC1S2 antibody is designed to detect BLOC1S2 (Biogenesis of Lysosome-Related Organelles Complex 1 Subunit 2), a protein component of the BLOC-1 complex. This multisubunit complex plays a critical role in the biogenesis and trafficking of lysosome-related organelles (LROs), including melanosomes, platelet dense granules, and synaptic vesicles. BLOC1S2. encoded by the BLOC1S2 gene, contributes to the structural integrity of the BLOC-1 complex, facilitating interactions with other trafficking regulators like AP-3 and kinesin motors.
Antibodies targeting BLOC1S2 are widely used in research to study LRO formation and their associated disorders. Mutations in BLOC-1 subunits, including BLOC1S2. are linked to Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and sometimes immunodeficiency or neurodegeneration. BLOC1S2 antibodies enable the detection of protein expression levels, subcellular localization, and interactions via techniques like Western blotting, immunofluorescence, and immunoprecipitation.
These tools have also shed light on BLOC1S2’s broader roles beyond HPS, including potential involvement in neuronal development, synaptic plasticity, and diseases such as schizophrenia. Researchers rely on BLOC1S2 antibodies to explore molecular mechanisms underlying organelle biogenesis and trafficking defects, offering insights into therapeutic strategies for related pathologies.