Biogenesis of lysosomal organelles complex 1 subunit 4 (BLOC1S4)

Biogenesis of lysosomal organelles complex 1 subunit 4 (BLOC1S4) is a protein-coding gene that encodes a core component of the BLOC-1 complex, which is essential for the formation (biogenesis) of specialized organelles within the endosomal-lysosomal system, such as melanosomes, platelet dense granules, and lysosomes. BLOC1S4, also known as cappuccino (CNO) and BLOS4, participates in intracellular vesicle trafficking, protein sorting, and maturation of lysosome-related organelles. In conjunction with the adaptor protein complex AP-3, the BLOC-1 complex ensures the correct targeting of membrane protein cargos to their destinations, notably in neurons and pigment-producing cells. Mutations in BLOC1S4 or other BLOC-1 subunits can cause Hermansky-Pudlak syndrome, a genetic disorder characterized by defects in organelles such as melanosomes, leading to pigmentation abnormalities and bleeding diathesis due to abnormal platelet granules. Emerging evidence suggests dysfunction of the BLOC-1 complex may also play a role in neuropsychiatric conditions, including schizophrenia, due to its involvement in neuronal protein trafficking and signaling.\n\nNo drugs are currently known to specifically interact with this target, and no biomarkers or specific safety issues are established for BLOC1S4 as a therapeutic target.

Other names

BLOC-1 subunit 4BLOS4cappuccino homologBiogenesis of lysosomal organelles complex-1, subunit 4BCAS4LProtein cappuccino homologCNOBLOC1S4CappuccinoFLJ11230protein cappuccino homologBiogenesis of lysosome-related organelles complex 1 subunit 4