Anti-BLOC1S1

BLOC1S1 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1) is a Protein Coding gene. Diseases associated with BLOC1S1 include Dyscalculia and Hermansky-Pudlak Syndrome 5. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. An important paralog of this gene is ENSG00000258311. Protein function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). [The UniProt Consortium]