BLOC1S2


Description

The BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2) is a protein-coding gene located on chromosome 10.

BLOC1S2 is a protein encoded by the BLOC1S2 gene in humans. It interacts with several other proteins, including BLOC1S1, SNAPAP, MUTED, CNO, and PLDN.

BLOC1S2 is a component of the BLOC-1 complex, which is essential for the normal formation of lysosome-related organelles (LROs) such as platelet dense granules and melanosomes. In collaboration with the AP-3 complex, BLOC-1 directs membrane protein cargo into vesicles that bud from the cell body and travel to neurites and nerve terminals. BLOC-1, along with SNARE proteins, is also thought to be involved in neurite extension. As part of the BORC complex, BLOC1S2 may contribute to lysosome movement and localization at the cell periphery. The BORC complex, associated with the cytosolic face of lysosomes, might recruit ARL8B and link lysosomes to microtubule plus-end-directed kinesin motors. BLOC1S2 may also play a role in cell proliferation.

BLOC1S2 is also known as BLOS2, BORCS2, CEAP, CEAP11.

Associated Diseases


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