DISEASES

Disease-gene associations mined from literature

Literature associating BLOC1S6 and brachial plexus neuritis

BLOC1S6 [ENSP00000220531]

Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin; 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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process; Belongs to the BLOC1S6 family.

Synonyms:  BLOC1S6,  BLOC1S6p,  hBLOC1S6,  BLOC1S6-001,  BLOC1S6-002 ...

Linkouts:  STRING  Pharos  UniProt