Biogenesis of lysosome-related organelles complex 1 subunit 2 (BLOC1S2)

Biogenesis of lysosome-related organelles complex 1 subunit 2 (BLOC1S2) is a protein-coding gene product and a component of the BLOC-1 complex, which is essential for the formation and function of lysosome-related organelles such as melanosomes and platelet dense granules[1][6][8]. BLOC1S2 localizes to the cytosolic face of lysosomes and the centrosome, co-localizing with gamma-tubulin[1][7][8]. It is implicated in vesicle targeting in neurons, neurite extension, and may have a role in cell proliferation[1][8]. Mutations in BLOC1S2 are associated with disorders like Hermansky-Pudlak syndrome, linked to defects in lysosome-related organelle biogenesis[1][6]. There is no evidence that BLOC1S2 is a therapeutic drug target, nor are any interacting drugs or known clinical biomarkers. Its main significance is in cell biology and genetic disease research[1][3][8].

Other names

Biogenesis of Lysosome-related Organelles complex-1 Subunit 2BLOC-1 subunit 2BLOS2CEAPBORCS2Centrosome-associated proteincentrosome protein oncogeneCEAP1111 kDa centrosome associated proteinRSEP1Sep1FLJ30135MGC10120biogenesis of lysosomal organelles complex 1 subunit 2