DISEASES

Disease-gene associations mined from literature

Literature associating BLOC1S3 and exotropia

BLOC1S3 [ENSP00000393840]

Biogenesis of lysosome-related organelles complex 1 subunit 3; 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. Plays a role in intracellular vesicle trafficking.

Synonyms:  BLOC1S3,  BLOC1S3p,  hBLOC1S3,  K7ELZ0,  K7EN58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM