DISEASES

Disease-gene associations mined from literature

Literature on BLOC1S2

BLOC1S2 [ENSP00000359398]

Biogenesis of lysosome-related organelles complex 1 subunit 2; 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 (PubMed:15102850, PubMed:17182842). 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 (By similarity). 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 . May play a role in cell proliferation . ECO:0000269|PubMed:15102850, ECO:0000269|PubMed:15381421,; Belongs to the BLOC1S2 family.

Synonyms:  BLOC1S2,  BLOC1S2p,  hBLOC1S2,  A0A087X1N6,  F1T0F0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM