Bloc1s5 - biogenesis of lysosomal organelles complex-1, subunit 5, muted

Involved in anterograde synaptic vesicle transport and gene expression. Acts upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5). [provided by Alliance of Genome Resources, Apr 2022]