BLOC-1
BLOC1 (biogenesis of lysosome-related organelles complex 1) is a multisubunit protein complex.
BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules.
Pathology
germline mutations of BLOC1S3 in Hermansky-Pudlak syndrome locus 8 (HPS8).
NB: Mutations in other BLOC-1 subunits have been associated with an HPS phenotype in humans and/or mouse.